15q13.3

Description:

Samples from cases referred from 2/2004 to 5/2008 (Medical Genetics Laboratories (MGL) at Baylor College of Medicine (BCM)

Diagnosis:

ASD

CNV Size: 1600000

Deletion: 5

Duplication: 0

Total CNV: 5

Description:

Samples from cases referred from 2/2004 to 5/2008 (Medical Genetics Laboratories (MGL) at Baylor College of Medicine (BCM)

Diagnosis:

Developmental delay, mental retardation, dysmorphic features, congenital anomalies, ASD, or general suspicion of a chromosomal anomaly

CNV Size: 1600000

Deletion: 13

Duplication: 0

Total CNV: 13

Description:

Samples from cases referred from 2/2004 to 5/2008 (Medical Genetics Laboratories (MGL) at Baylor College of Medicine (BCM)

Diagnosis:

Developmental delay, mental retardation, dysmorphic features, congenital anomalies, or general suspicion of a chromosomal anomaly

CNV Size: 1600000

Deletion: 8

Duplication: 0

Total CNV: 8

Description:

102 patients with idiopathic generalized epilepsy (IGE) or epilepsy with other neurodevelopmental disorders

Diagnosis:

Primary diagnosis of epilepsy. 50 cases with isolated epilepsy, 52 cases with epilepsy accompanied by DD/ID, dysmorphism, autism, or other neurological signs.

CNV Size: 108000

Deletion: 0

Duplication: 1

Total CNV: 1

Description:

Probands with childhood onset schizophrenia screened for 46 well-documented neurodevelopmental risk CNVs

Diagnosis:

Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years); medical or neurological disorders, or IQ under 70, were exclusionary criteria.

CNV Size: 475000

Deletion: 2

Duplication: 0

Total CNV: 2

Description:

4-year-old male patient born to parents with no family history of seizures, autism, mental retardation, or other neurological impairments.

Diagnosis:

Case presented with autism, speech delay, and epilepsy/seizures

CNV Size: 500000

Deletion: 0

Duplication: 1

Total CNV: 1

Description:

Unrelated Tourette syndrome (TS) patients recruited through the Herlev Tourette Clinic (Denmark)

Diagnosis:

Tourette syndrome (TS) with additional comorbidities, including ADHD, OCD, and ASD

CNV Size: 420000

Deletion: 0

Duplication: 1

Total CNV: 1

Description:

ASD cases screened for 15q13.3 CNVs from 133 families recruited at the Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry (Calambrone, Pisa, Italy)

Diagnosis:

ASD diagnosis based on ADI-R and ADOS

CNV Size: 500000

Deletion: 0

Duplication: 1

Total CNV: 1

Description:

ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.

Diagnosis:

ASD

CNV Size: 16891

Deletion: 1

Duplication: 0

Total CNV: 1

Description:

Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)

Diagnosis:

ASD

CNV Size: 372000

Deletion: 0

Duplication: 1

Total CNV: 1

Description:

Patient, born to healthy non-consanguineous parents with no family history of ID, referred at 18 months of age for marked psychomotor and developmental delay; patient carries balanced de novo triple translocation t(11;17;19)(q13.3;q25.1;q13.42)dn with breakpoint disrupting the SHANK2 gene.

Diagnosis:

Severe DD/ID, language impairment, behavioral abnormalities

CNV Size: 489130

Deletion: 0

Duplication: 1

Total CNV: 1

Description:

Patients recruited from the Children's Mental Health Center, National Taiwan University Hospital, Taipei, Taiwan and Department of Psychiatry, Chang-Gung Memorial Hospital, Kuei-Shan, Taiwan.

Diagnosis:

All cases met the clinical diagnosis of autistic disorder as defined by DSM-IV; diagnosis was confirmed by interviewing parents using the Chinese version of ADI-R, and all cases received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. Intelligence was measured using the Wechsler Primary and Preschool Scale of Intelligence-Revised (WPPSI-R), the Wechsler Intelligence Scale for Children-3rd Edition (WISC-III), or the Wechsler Adult Intelligence Scale (WAIS). Autistic-like social deficits were assessed using the Social Responsiveness Scale (SRS); symptoms of inattention, hyperactivity, and oppositional behavior were assessed using the Swanson, Nolan and Pelham Quest

CNV Size: 400000

Deletion: 1

Duplication: 1

Total CNV: 2

Description:

Consecutive patients enrolled at National Cheng Kung University Hospital (Tainan, Taiwan) from Feb 2018 to Dec 2019

Diagnosis:

Cases presented with moderate or severe developmental delay/intellectual disability (DD/ID); autism spectrum disorder (ASD) was diagnosed in 15 cases (24.6%) based on DSM-V criteria.

CNV Size: 419241

Deletion: 0

Duplication: 1

Total CNV: 1

Description:

ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).

Diagnosis:

Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories

CNV Size: 445000

Deletion: 1

Duplication: 0

Total CNV: 1

Description:

Individuals who had a Neurodevelopmental Reflex (NDR) panel ordered through Cincinnati Children's Hospital Medical Center (CCHMC) from January 2018 to April 2019.

Diagnosis:

Common clinical indications for patients in this cohort included autism spectrum disorder (ASD), developmental delay(DD), speech delay, intellectual disability (ID), gross motor delay, mixed receptive-expressive language disorder, epilepsy (EP), and/or dysmorphic features.

CNV Size: 495614

Deletion: 1

Duplication: 0

Total CNV: 1

Description:

Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study

Diagnosis:

Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.

CNV Size: 853498

Deletion: 0

Duplication: 1

Total CNV: 1

Description:

Participants recruited between 2010 and 2014 and identified through medical genetics, learning disability, and pediatric neurology clinics around Wales

Diagnosis:

All cases presented with childhood-onset epilepsy (25 with epileptic encephalopathy, 22 with non-lesional focal epilepsies, 22 with genetic generalized epilepsy with ID, 11 unclassified or unknown) and developmental delay (DD) or intellectual disability (ID)

CNV Size: 494000

Deletion: 0

Duplication: 2

Total CNV: 2

Description:

Sporadic ASD cases born to unrelated parents with no family history of ASD, with an additional ASD case with an affected father

Diagnosis:

ASD cases met DSM5 criteria and were diagnosed by pediatric neurologists specializing in autism

CNV Size: 445000

Deletion: 0

Duplication: 1

Total CNV: 1

Description:

ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort

Diagnosis:

All cases diagnosed with ASD

CNV Size: 16497

Deletion: 2

Duplication: 0

Total CNV: 2

Description:

ASD cases with sporadic autism from the Simons Simplex Collection (SSC)

Diagnosis:

Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.

CNV Size: 436756

Deletion: 0

Duplication: 3

Total CNV: 3

Description:

Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.

Diagnosis:

Developmental delay with or without congenital malformations

CNV Size: 440000

Deletion: 7

Duplication: 130

Total CNV: 137

Description:

1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.

Diagnosis:

Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)

CNV Size: 36303

Deletion: 5

Duplication: 0

Total CNV: 5

Description:

ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.

Diagnosis:

Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)

CNV Size: 24402

Deletion: 0

Duplication: 1

Total CNV: 1

Description:

18 patients from 17 families evaluated by providers at Texas Children's Hospital and tested by clinical chromosomal microarray (CMA) by the Baylor Genetics Laboratory (BGL) or Signature Genomic Laboratory for CHRNA7 duplications

Diagnosis:

7/17 cases met criteira for ASD based on clinical impression; 11/18 cases presented with ADHD. Cognitive and behavioral testing included the Differential Ability Scales, Second Edition (DAS-II), the Autism Diagnostic Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2), the Adaptive Behavior Assessment System, Second Edition (ABAS-II), and the Behavioral Assessment for Children, Second Edition (BASC-2).

CNV Size: 441000

Deletion: 0

Duplication: 16

Total CNV: 16

Description:

Sporadic Iranian ASD cases with no family history of ASD

Diagnosis:

Cases met DSM-5 criteria for ASD as diagnosed by pediatric neurologists specializing in autism; case also had intellectual disability with one or more additional clinical features

CNV Size: N/A

Deletion: 0

Duplication: 1

Total CNV: 1

Description:

Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)

Diagnosis:

Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol

CNV Size: 615181

Deletion: 0

Duplication: 3

Total CNV: 3

Description:

Probands from a database of >15,000 patients tested in the Mayo Clinic Cytogenetics Laboratory from 2008-2011.

Diagnosis:

Developmental delay, intellectual disability, ASD, ADHD, and/or other non-neuropsychiatric features

CNV Size: NA

Deletion: 10

Duplication: 0

Total CNV: 10

Description:

Patients with 16q24.2 deletions recruited at the University of Alberta, Edmonton, the Hospital for Sick Children, Toronto, Signature Genomic Laboratories, and the Mayo Clinic).

Diagnosis:

22 patients with ASD (19 with pervasive developmental delay/PDD, 3 with autism), 3 patients with intellectual disability (defined as IQ<70 by DSM-IV); 11 patients with facial dysmorphisms.

CNV Size: 409512

Deletion: 1

Duplication: 0

Total CNV: 1

Description:

Cohort of 114 Thai ASD probands (68 retrospective ASD cases with the use of chromosomal microarray/CMA as a second line test; 46 prospective ASD and developmental delay cases with the use of CMA as the first-tier test)

Diagnosis:

68 cases with non-syndromic ASD (61 of which also presented with intellectual disability) were diagnosed with ASD based on meeting DSM-IV criteria for ASD, whereas an additional 46 prospective ASD and DD cases were given a clinical diagnosis of ASD based on DSM-5 criteria.

CNV Size: 25000

Deletion: 1

Duplication: 0

Total CNV: 1

Description:

Patients receiving a diagnosis of ASD in the Department of Child Health Care, Children's Hospital of Fudan University, that were included consecutively from January 2019 to December 2020.

Diagnosis:

Cases met criteria for autism spectrum disorder (ASD) using DSM-5 criteria.

CNV Size: 378584

Deletion: 0

Duplication: 1

Total CNV: 1

Description:

Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium

Diagnosis:

Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome

CNV Size: 537289

Deletion: 2

Duplication: 8

Total CNV: 10

Description:

Three patients with RBFOX1 CNVs seen in clinical genetics unit (New South Wales, Australia)

Diagnosis:

All three cases met DSM-IV-TR criteria for ASD (autistic disorder in two cases, PDD-NOS in one case).

CNV Size: 444000

Deletion: 0

Duplication: 1

Total CNV: 1

Description:

Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)

Diagnosis:

Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits

CNV Size: 81000

Deletion: 0

Duplication: 1

Total CNV: 1

Description:

Probands from the Simons Simplex Collection

Diagnosis:

Diagnosis of ASD

CNV Size: 81000

Deletion: 0

Duplication: 7

Total CNV: 7

Description:

ASD cases recruited by the PARIS (Paris Autism Research International Sibpair) study at specialized centers disposed in France, Sweden, Germany, Finland, and the UK.

Diagnosis:

171 cases with autism, 20 cases with atypical autism, 69 cases with Asperger syndrome (ADOS and either ADI-R or DISCO-10 used for diagnosis). 79 cases with IQ>70, 133 cases with IQ<70, 48 cases with unknown IQ.

CNV Size: 496055

Deletion: 0

Duplication: 1

Total CNV: 1

Description:

Dataset featuring ASD patients from the Autism Genome Project carrying de novo SHANK2 deletions previously identified by Pinto et al. 2010. CNV validation information taken from Pinto report.

Diagnosis:

1 patient diagnosed with autism, 1 patient diagnosed with PDD-NOS.

CNV Size: 495448

Deletion: 0

Duplication: 1

Total CNV: 1

Description:

Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.

Diagnosis:

ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.

CNV Size: 61250

Deletion: 0

Duplication: 1

Total CNV: 1

Description:

Individuals referred for postnatal genetic testing across 10 different sites, including 64,114 subjects with neurodevelopmental disorders, from Alberta Children's Hospital, BBGRE, Boston Children's Hospital, Credit Valley Hospital, the Hospital for Sick Children, Italian diagnostic laboratories, The Mayo Clinic, Odense University Hospital, Signature Genomics, and The Centre for Applied Genomics

Diagnosis:

64,114 cases with neurodevelopmental disorders (including ASD, ADHD, developmental delay, and/or intellectual disability); 25,871 cases with non-neurodevelopmental disorders (multiple congential anomalies, etc.)

CNV Size: 444868

Deletion: 0

Duplication: 1

Total CNV: 1

Description:

Adults with 15q13.3 deletions; one case from a cohort of 459 adults with schizophrenia (case 1); two adult probands from a collection of 11,150 clinical samples submitted for clinical microarray at the Hospital for Sick Children (cases 5 and 7); and a sample submitted to the Hospital for Sick Children for parental testing following the birth of an affected child (case 6).

Diagnosis:

All four cases present with some degree of developmental delay/intellectual disability or learning disability. Additional diagnoses/phenotypes include schizophrenia (n=1), epilepsy (n=1), ADHD (n=1), major depression (n=2), and anxiety (n=2).

CNV Size: 1690000

Deletion: 3

Duplication: 0

Total CNV: 3

Description:

ASD cases from 19 Italian ASD multiplex families with either two (N=16) or three (N=3) autistic children

Diagnosis:

Cases were assessed with ADOS and ADI-R, Vineland Adaptive Behavior Scales, and either the Wechsler Intelligence Scales for Children (WISC), Griffith Mental Developmental Scales, Colored Raven Matrices, or Leiter International Performance Scale.

CNV Size: 466297

Deletion: 0

Duplication: 3

Total CNV: 3

Description:

Children from 13 ASD trio families recruited at the Department of Pediatrics of the Chinese PLA General Hospital for Autism Research

Diagnosis:

Diagnosis of ASD made according to DSM-IV

CNV Size: 484088

Deletion: 0

Duplication: 1

Total CNV: 1

Description:

Patients referred for clinical array CGH testing between January 2009 & December 2010 for various neurodevelopmental phenotypes (Univ. of Alabama-Birmingham)

Diagnosis:

Developmental delay (DD), intellectual disability (ID), ASD, and/or multiple congenital anomalies

CNV Size: 537000

Deletion: 1

Duplication: 0

Total CNV: 1

Description:

Three affected brothers from a family with Tourette syndrome and comorbidities

Diagnosis:

Diagnosis of Tourette syndrome (TS) based on DSM-IV-TR criteria in all three cases; two cases with additional diagnoses of OCD, one case with additional diagnosis of ADHD

CNV Size: 433000

Deletion: 0

Duplication: 1

Total CNV: 1

Description:

ASD cases ascertained at the "Centro de Pesquisa sobre o Genoma Humano e Celulas Tronco" (CEGH-Cel), IB-USP, for CNVs affecting 15q13.3, 16p11.2, and 22q13.33 regions

Diagnosis:

ASD cases without (N=453) or with epilepsy (N=78). Diagnosis of ASD according to DSM-IV crtieria by psychiatrists from Institutio de Psiquiatria, Hospital das Clinicas-Universidade de Sao Paulo (IPq-USP); whenever possible, an interview based on ADI-R and CARS was applied. Diagnosis of epilepsy based on occurrence of at least two unprovoked seizure episodes occurring more than 24 hours apart.

CNV Size: 555000

Deletion: 0

Duplication: 2

Total CNV: 2

Description:

8-year-old male proband with a maternally-inherited 15q13.3 duplication from a family with an unaffected mother with self-reported traits of depression and anxiety disorder and ADHD and an affected brother with pervasive developmental delay, depression and anxiety disorder, developmental delay, nonverbal communication problems, speech/language delay, ADHD, autistic traits, and mood disorder who al

Diagnosis:

Proband diagnosed with ASD, ADHD, depression and anxiety disorder and presented with developmental delay.

CNV Size: 424130

Deletion: 0

Duplication: 1

Total CNV: 1

Description:

Autism Genome Project (AGP) cohort of 525 probands and their parents. Multiplex:simplex ratio of 2:1.

Diagnosis:

ASD

CNV Size: 2000000

Deletion: 1

Duplication: 0

Total CNV: 1

Description:

Half-siblings of CNV-positive proband from discovery case cohort

Diagnosis:

ASD

CNV Size: 2000000

Deletion: 2

Duplication: 0

Total CNV: 2

Description:

Youth with ASD (as part of mother-father-child trios)

Diagnosis:

ASD

CNV Size: 39198

Deletion: 1

Duplication: 0

Total CNV: 1

Description:

Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER

Diagnosis:

Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD

CNV Size: 489130

Deletion: 0

Duplication: 1

Total CNV: 1

Description:

ASD cases evaluated with chromosomal microarray (CMA) from 2008-2015

Diagnosis:

Cases assessed for ASD according to DSM-IV behavioral criteria

CNV Size: 824800

Deletion: 1

Duplication: 1

Total CNV: 2

Description:

Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals

Diagnosis:

ASD (ADI-R and ADOS): strict, broad, or spectrum ASD

CNV Size: 540422

Deletion: 0

Duplication: 4

Total CNV: 4

Description:

ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)

Diagnosis:

Cases classified according to ADOS and ADI-R

CNV Size: 510730

Deletion: 0

Duplication: 2

Total CNV: 2

Description:

Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).

Diagnosis:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS

CNV Size: 36304

Deletion: 2

Duplication: 0

Total CNV: 2

Description:

ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)

Diagnosis:

Cases diagnosed with ASD

CNV Size: 81004

Deletion: 2

Duplication: 3

Total CNV: 5

Description:

Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study

Diagnosis:

All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]

CNV Size: 443294

Deletion: 0

Duplication: 6

Total CNV: 6

Description:

Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)

Diagnosis:

ASD

CNV Size: 395473

Deletion: 3

Duplication: 1

Total CNV: 4

Description:

Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes

Diagnosis:

Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients

CNV Size: 486123

Deletion: 0

Duplication: 5

Total CNV: 5

Description:

Consecutive patients referred with either ASD or learning disability for genetic services at the University of Kansas Medical Center from 2009-2012

Diagnosis:

ASD (n=65) or learning disability (LD; n=150); learning disability defined as developmental delay (infants & children) and/or intellectual disability (older children & adults)

CNV Size: 548000

Deletion: 0

Duplication: 1

Total CNV: 1

Description:

Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.

Diagnosis:

ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)

CNV Size: 3173

Deletion: 0

Duplication: 1

Total CNV: 1

Description:

Affected family members in three generations affected with various neuropsychiatric phenotypes and cognitive impairment

Diagnosis:

Two twin brothers (III-2 and III-3) diagnosed with PDD-NOS, anxiety disorder, dysthymia, and borderline intellectual functioning; their mother (II-3) with a history of developmental delay and diagnosed with bipolar disorder, anxiety disorder, attention deficit disorder, learning disability, and seizures; and their maternal grandfather (I-1), whose clinical information was significant for alcoholism, drug addiction, and abusive behaviors to family members.

CNV Size: 650400

Deletion: 0

Duplication: 8

Total CNV: 8

Description:

Patients with normal karyotype referred for further genetic testing from March 2012-April 2014

Diagnosis:

34 cases with ASD, 54 cases with DD/ID, 8 cases with ASD and DD/ID

CNV Size: 444000

Deletion: 0

Duplication: 1

Total CNV: 1

Description:

Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine

Diagnosis:

Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features

CNV Size: 445000

Deletion: 0

Duplication: 2

Total CNV: 2

Description:

Replication cohort consisting of patients referred to the Mayo Clinic

Diagnosis:

Autism or pervasive developmental disorder (PDD)

CNV Size: 273113

Deletion: 0

Duplication: 1

Total CNV: 1

Description:

Individuals with BPD from Belgium, individuals with BPD originating from a geographically isolated population of the County of Vasterbotten (Northern Sweden), and Northwestern European individuals with BPD contacted through inpatient and outpatient services of hospitals in Aberdeen and Edinbergh, Scotland.

Diagnosis:

Bipolar disorder (BPD). Final diagnosis based on meeting DSM-IV criteria.

CNV Size: 229000

Deletion: 0

Duplication: 2

Total CNV: 2

Description:

Patients recruited through specific psychiatric service in Scotland serving the needs of patients with ID who also suffer from behavioral disorders.

Diagnosis:

Intellectual disability (ID). Cases with total IQ<70 met definition of ID.

CNV Size: 1071000

Deletion: 1

Duplication: 2

Total CNV: 3

Description:

Northwestern European individuals with MDD contacted through inpatient and outpatient services of hospitals in Aberdeen and Edinbergh, Scotland.

Diagnosis:

Major depressive disorder (MDD). Final diagnosis based on meeting DSM-IV criteria.

CNV Size: 229000

Deletion: 0

Duplication: 2

Total CNV: 2

Description:

Individuals with SCZ from Belgium, individuals with SCZ originating from a geographically isolated population of the County of Vasterbotten (Northern Sweden), and Northwestern European individuals with SCZ contacted through inpatient and outpatient services of hospitals in Aberdeen and Edinbergh, Scotland.

Diagnosis:

Schizophrenia (SCZ). Final diagnosis based on meeting DSM-IV criteria.

CNV Size: 1071000

Deletion: 1

Duplication: 6

Total CNV: 7

Description:

ASD patients from 132 simplex and 13 multiplex families of Polish descent

Diagnosis:

Diagnosis of ASD based on ICD-10 standards and Childhood Autism Rating Scale (CARS) protocol. 45 cases with additional diagnosis of developmental delay /intellectual disability.

CNV Size: 200000

Deletion: 0

Duplication: 1

Total CNV: 1

Description:

Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.

Diagnosis:

Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).

CNV Size: 400388

Deletion: 0

Duplication: 1

Total CNV: 1

Description:

Patients referred to the Duke Autism Genetics Clinic for clinical genetic evaluation of ASD and DD/ID from 2010-2014

Diagnosis:

66 cases with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis), 49 cases with primary diagnosis of DD or ID (based on IQ and DQ scores).

CNV Size: 2370000

Deletion: 1

Duplication: 0

Total CNV: 1

Description:

ASD probands referred to the Clinical Genetics Service for genetic testing

Diagnosis:

Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)

CNV Size: 440507

Deletion: 0

Duplication: 1

Total CNV: 1

Description:

Patients with 15q13.3 microdeletions spanning at least BP4-BP5 identified retrospectively by review of CMA results performed in the Baylor Medical Genetics Laboratory or Signature Genomics Laboratories (prior to its closure in 2014).

Diagnosis:

Original reasons for referral of cases included developmental delay (DD; n=5), intellectual disability (ID; n=9), ADHD (n=4), ASD (n=3), and depression (n=2). Cognitive and behavioral testing involved usage of the Differential Ability Scales-II; the Autism Diagnostic Interview-Revised (ADI-R); the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2); the Adaptive Behavior Assessment System, Second Edition (ABAS-II); and the Behavioral Assessment for Children, Second Edition (BASC-2).

CNV Size: N/A

Deletion: 15

Duplication: 0

Total CNV: 15

Description:

Probands diangosed with childhood-onset schizophrenia recruited nationally as part of an ongoing longitudinal study

Diagnosis:

Childhood-onset schizophrenia (SCZ); probands met criteria for schizophrenia in the DSM-IIIR/DSM-IV before the age of 13 years.

CNV Size: 600200

Deletion: 0

Duplication: 2

Total CNV: 2

Description:

ASD probands from families recruited from training centers in Beijing and Tsingdao, China

Diagnosis:

Cases were diagnosed for ASD by ADI-R and ADOS

CNV Size: 142000

Deletion: 0

Duplication: 3

Total CNV: 3

Clinical Profile:

Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years)

Cognitive Profile:

IQ 70

Primary Disorder Inheritence: -

Family Profile: Unknown

Clinical Profile:

Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years)

Cognitive Profile:

IQ 70

Primary Disorder Inheritence: -

Family Profile: Unknown

Clinical Profile:

Diagnosis of autism based on meeting ADI-R and ADOS criteria. Birth and neonatal history: no exposure of history of alcohol, tobacco, or drug abuse during pregnancy; born at term by C-section; birth weight of 3550 g (50th %ile) and length of 50 cm (50th %ile); breast-fed with good suction. Developmental milestones: sat unaided at age of 8 months, started walking independently at 16 months; babbling noted at age of 9 months, pronounced first words at 12 months; regression of language skills at age 18 months associated with refusal of physical contact, selective feeding, and hyperactivity. Language and communication evaluation: able to pronounce only single words with reduced gesture repertoire; limited comprehension. Epilepsy/seizures: developed complex partial seizures with secondary generalization at age of 13 years. EEG: reported to be normal at age of 5 years 5 months. Brain imaging: brain MRI reported to be normal. Dysmorphic features: bilateral epicanthal folds, broad-hypoplastic nasal bride, prominent digit pads. Growth parameters: weight of 26 kg (97th %ile), height of 114 cm (50th-75th %ile), and OFC of 55.5 cm (>90th %ile) at age of 5 years 5 months. Family history: only child of healthy non-consanguineous parents; paternal grandfather's sister affected by intellectual disability; paternal grandfather's brother had speech delay.

Cognitive Profile:

Moderate cognitive impairment

Primary Disorder Inheritence: -

Family Profile: Possible multi-generational

Clinical Profile:

Age of onset of epilepsy: 3 years. Seizure types/epilepsy syndrome: juvenile myoclonic epilepsy (JME) with absence seizures with eyelid myoclonia and generalized tonic-clonic seizures (GTCS). Parental phenotype: unknown.

Cognitive Profile:

Normal IQ

Primary Disorder Inheritence: -

Family Profile: -

Clinical Profile:

Birth/neonatal history: product of full term gestation delivered via repeat cesarian section; no complications with pregnancy or delivery. Developmental milestones: speech delay; first words around 1 year of age, speaking in multiple word phrases at age of 3 years. Behavioral/psychiatric evaluation: failed to engage socially with other children his age; inappropriately affectionate towards adults, even those he did not know; poor eye contact; repeatedly hugged examiner, but did not speak to the examiner or answer questions; no echolalia. Epilepsy/seizures: three reported seizures; first event described as a 5-minute generalized convulsion, patient found to be febrile and treated with antibiotics for sinusitis; second seizure (generalized convulsion) reportedly resolved after 2 minutes, but then recurred about 2 hours later and last approximately 5 minutes, patient again found to be febrile and was diagnosed with upper respiratory tract infection; third seizures (focal) occurred more than a year later, described as slumping to the right and shaking of right arm, lasting about 2 minutes. EEG: initial routine EEG showed rare right parietal sharp waves; subsequent monitoring with continuous EEG for 2 days demonstrated 3- to 4-Hz sharp wave and slow wave discharges independently over both hemispheres, right greater than left; no seizures were captured. Brain imaging: brain MRI significant for pachygyria and associated subcortical band heterotopia in the posterior frontal and temporal lobes and in the parietal and occipital lobes. Additional medical history: no significant medical history prior to presentation of symptoms. Family history: no family history of seizures, autism, mental retardation, or other neurologic impairments; parents declined genetic testing.

Cognitive Profile:

-

Primary Disorder Inheritence: -

Family Profile: Unknown

Clinical Profile:

Moderate language delay, seizures unknown, implusive, ADHD, mood disorder, nystagmus; weight <5%, height 5%, FOC 2%

Cognitive Profile:

IQ 70

Primary Disorder Inheritence: -

Family Profile: Multiplex

Clinical Profile:

Moderate language delay, seizures unknown, implusive, ADHD, mood disorder, nystagmus; weight <5%, height 5%, FOC 2%

Cognitive Profile:

IQ 70

Primary Disorder Inheritence: -

Family Profile: Multiplex

Clinical Profile:

Mild language delay, no seizures, ADHD; weight 95%, height >97%, FOC 90%

Cognitive Profile:

IQ 82

Primary Disorder Inheritence: -

Family Profile: NA

Clinical Profile:

Moderate language delay, no seizures, ADHD; long digits, facial dysmorphisms, sleep problems; weight, height, and FOC within normal range. Sibling of non-ASD discovery case F8-2.

Cognitive Profile:

Mild MR

Primary Disorder Inheritence: -

Family Profile: Multiplex

Clinical Profile:

Severe language delay, no seizures, extremely hyperkinetic & very aggressive behaviors, mild facial dysmorphism; weight 50%, height 75% (10 yrs.), FOC 50% (birth)

Cognitive Profile:

IQ 27

Primary Disorder Inheritence: -

Family Profile: NA

Clinical Profile:

Global developmental delay, too young to determine ASD; severe language delay, no seizures, rocking, normal MRI; weight 2%, height 10%, FOC 25%

Cognitive Profile:

NA

Primary Disorder Inheritence: -

Family Profile: Multiplex (siblings with learning disability)

Clinical Profile:

Moderate developmental delay, no ASD; severe language delay, no seizures; weight 95%, height 90%, FOC >97%

Cognitive Profile:

NA

Primary Disorder Inheritence: -

Family Profile: NA

Clinical Profile:

Moderate developmental delay/borderline ASD; severe language delay, no seizures, normal MRI, weight/height/FOC all 50-75%

Cognitive Profile:

NA

Primary Disorder Inheritence: -

Family Profile: NA

Clinical Profile:

Mild language delay, normal developmental delay (?), no ASD, seizures, normal MRI; weight 65%, height 7%

Cognitive Profile:

NA

Primary Disorder Inheritence: -

Family Profile: NA

Clinical Profile:

Moderate developmental delay, no ASD; moderate language delay, no seizures, digital findings, arachnoid cyst; weight 44%, height 11%, FOC 75%

Cognitive Profile:

NA

Primary Disorder Inheritence: -

Family Profile: NA

Clinical Profile:

Mild developmental delay, no ASD; moderate language delay, no seizures, aggressive, self-injurious; weight 92%, height >89%, FOC 50%

Cognitive Profile:

NA

Primary Disorder Inheritence: -

Family Profile: NA

Clinical Profile:

Moderate developmental delay, no ASD; moderate language delay, no seizures, head banging, digital findings, normal MRI; weight, height, & FOC within normal range

Cognitive Profile:

NA

Primary Disorder Inheritence: -

Family Profile: NA

Clinical Profile:

No ASD; moderate language delay, no seizures, impulsive, ADHD, mood disorder, long digits, facial dysmorphisms, sleep problems; weight, height, and FOC within normal range. Sibling of ASD discovery case F8-1.

Cognitive Profile:

Mild MR

Primary Disorder Inheritence: -

Family Profile: Multiplex

Clinical Profile:

Symptoms: TS. Family history: both mother and father were unaffected.

Cognitive Profile:

N/A

Primary Disorder Inheritence: -

Family Profile: Unknown

Clinical Profile:

NA

Cognitive Profile:

NA

Primary Disorder Inheritence: -

Family Profile: Simplex

Clinical Profile:

Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 11 (past score 22); Qualitative abnormalities in verbal and nonverbal communication, current score 6 (past score 11); Qualitative abnormalities in nonverbal communication, current score 3 (past score 6); Restricted, repetitive, and stereotyped patterns of behaviour, current score 6 (past score 8); Abnormality of development evident at or before 36 months, past score 3. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 95; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 41. Epilepsy: no history of epilepsy.

Cognitive Profile:

Performance IQ 105, Verbal IQ 114, Full-scale IQ 111

Primary Disorder Inheritence: -

Family Profile: -

Clinical Profile:

Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 0 (past score 8); Qualitative abnormalities in verbal and nonverbal communication, current score 2 (past score 10); Qualitative abnormalities in nonverbal communication, current score 0 (past score 5); Restricted, repetitive, and stereotyped patterns of behaviour, current score 5 (past score 6); Abnormality of development evident at or before 36 months, past score 2. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 71; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 28. Epilepsy: no history of epilepsy.

Cognitive Profile:

Performance IQ 112, Verbal IQ 95, Full-scale IQ 103

Primary Disorder Inheritence: -

Family Profile: -

Clinical Profile:

Patient referred at 18 months for marked psychomotor and developmental delay. Karyotype: 46, XY, t(11;17;19)(q13.3;q25.1;q13.42)dn; translocation with breakpoints within the SHANK2 and UBE2O genes. Birth/neonatal history: duing pregnancy mother had cervical cancer (treated after birth), born at 39 weeks gestation by C-section; birth weight -0.23 SD, length -0.83 SD, OFC +0.7 SD; uneventful perinatal adaption; ventricular septal defect diagnosed at 2 months. Developmental milestones: psychomotor retardation noted at 1.5 years; sat independently at 8 months, began to walk with support at 2.5 years, independent walking at 3.5 years, not toilet trained at 5 years of age. Language and communication evaluation: no spoken language. Motor and musculoskeletal evaluation: ataxia, able to stand with support. Behavioral/psychiatric evaluation: anxious, exhibited habit disorder with stereotypic movements, decreased sensitivity to pain, often caused self-injury. EEG: increased irregular activity. Brain imaging: normal by ultrasound. Visual and auditory evaluation: normal. Sleep disturbances: serious sleeping disturbances. Other features: elevated alkaline phosphatase, lactate dehydrogenase, and serum magnesium levels. Dysmorphic features: coarse face with facial dysmorphism, broad thorax, clinodactyly of 2nd and 3rd toes. Growth parameters: weight of 19.3 kg (+0.1 SD), length of 105 cm (-1.0 SD) and OFC of 51 cm (0 SD) at 5 years of age. Family history: second child of healthy non-consanguineous parents; no family history of miscarriages, ID, or alcohol exposure in utero.

Cognitive Profile:

Severe DD/ID. Evaluation at age of 1.5 years: Brunet-Lezine development test showed delay in movements, coordination, communication, and social skills; psychomotor development corresponded to 9 months, development quotient of 48; Bayley Scales of Infant Development gave Developmental Index score of 84.

Primary Disorder Inheritence: -

Family Profile: Possibly simplex (no info on 1st child)

Clinical Profile:

NA

Cognitive Profile:

NA

Primary Disorder Inheritence: -

Family Profile: Multiplex

Clinical Profile:

Diagnosis: early infantile autism. Comorbidities/additional features: ADHD. Family history: sister with cognitive impairment. CNV: high stringency genic CNV call (2 or more algorithms, with no overlapping calls in 2,357 POPGEN and OHI controls, 100% overlap in DGV.

Cognitive Profile:

Cognitive impairment (IQ<60)

Primary Disorder Inheritence: -

Family Profile: -

Clinical Profile:

Case met DSM5 criteria for ASD and was diagnosed by pediatric neurologists specializing in autism. Behavioral/psychiatric evaluation: ADHD. Epilepsy/seizures: seizures. Growth parameters: mild microcephaly (head circumference -2 SD).

Cognitive Profile:

Intellectual disability

Primary Disorder Inheritence: -

Family Profile: Simplex

Clinical Profile:

Global developmental delay; Abnormal facial shape; Mild short stature; Abnormality of the cardiac septa

Cognitive Profile:

-

Primary Disorder Inheritence: -

Family Profile: Simplex

Clinical Profile:

Clinical features: severe intellectual disability, developmental regression, ASD, challenging behavior, dysmorphic features. Age of seizure onset: 11 years. Epilepsy syndrome: focal epilepsy. Seizure types: absence seizures.

Cognitive Profile:

Severe intellectual disability

Primary Disorder Inheritence: -

Family Profile: -

Clinical Profile:

Clinical features: mild intellectual disability, thin habitus, depression. Age of seizure onset: 18 months. Epilepsy syndrome: genetic generalized epilepsy with ID. Seizure types: absence seizures, myoclonic seizures, generalized tonic-clonic seizures.

Cognitive Profile:

Mild intellectual disability

Primary Disorder Inheritence: -

Family Profile: -

Clinical Profile:

ASD; no other clinical information provided

Cognitive Profile:

N/A

Primary Disorder Inheritence: -

Family Profile: Unknown

Clinical Profile:

Seizures, ADHD, microcephaly

Cognitive Profile:

Intellectual disability

Primary Disorder Inheritence: -

Family Profile: Simplex

Clinical Profile:

Case met or exceeded cutoff scores in all behavioral areas on ADI-R and met criteria for autism on ADOS (clinical impression of ASD). Original reason for referral: Central nervous system disorder. Developmental milestones: walking at 19 months, first word at 17 months, 2 word sentences at 47 months. Langauge and communication evaluation: language impairment. Motor and musculoskeletal evaluation: no hypotonia. Behavioral/psychiatric evaluation: ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 25th %ile, weight 10th %ile, OFC 90th %ile. Ethnicity: Caucasian. Family history: carrier parental phenotype, mother was bipolar as a teen and had challenges in high school; noncarrier parental phenotype, father has a history of depression and had challenges in high school.

Cognitive Profile:

Full scale ratio IQ (DAS-II): 71.