HELP     Sign In

13q31.3-q32.3CNV Type: Duplication


Largest CNV size: 8200000 bp

Statistics Box:
Number of Reports: 1



Summary Information

A paternally-inherited duplication spanning this region was identified in a 12-year-old male patient presenting with ASD and learning difficulties; the proband's father was reported to have learning difficulties as a child (Atack et al., 2014).

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

References

Major Reports

Title
Author, Year
Report Class
CNV Type

No Major Reports

Minor Reports

Title
Author, Year
Report Class
CNV Type
A novel (paternally inherited) duplication 13q31.3q32.3 in a 12-year-old patient with facial dysmorphism and developmental delay.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 atack_14_ASD_discovery_cases
 Second child of healthy, non-consanguineous parents referred to Clinical Genetics service (Sheffield Children's NHS Foundation Trust, Sheffield UK)
 1
 Learning difficulties, autistic spctrum disorder (diagnostic tools N/A), unexplained muscle cramps with no evidence of a myopathy, and dysmorphic features
 12 yrs.
 Male
 8200000
 0
 1
 1

Controls

No Control Data Available

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 atack_14_ASD_discovery_cases
  White European
 aCGH
  Oxford Gene Technologies 8x60K ISCA
 
 BlueGnome BlueFuse-Multi v3
 None

Controls

No Control Data Available

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  atack_14_ASD_discovery_cases-case1
 12 yrs.
 M
 ASD and learning difficulties
 Case referred to Clinical Genetics service with learning difficulties, autistic spctrum disorder (diagnostic tools N/A), and unexplained muscle cramps with no evidence of a myopathy. Birth/neonatal history: normal antenatal scans; no concerns during pregnancy; born at term; birth weight of 3.28 kg (9th-25th %ile); was well immediately after birth. Developmental milestones: developmental delay; sat up at 10 months, walked at 2 years; delayed speech. Motor and musculoskeletal evaluation: previously examined by Pediatric Neurology department for muscle cramps; no evidence of myopathy (metabolic study results reported as normal). Dysmorphic features: elongated and wide palpebral fissures, elongated columella, bilateral low-set ears, short-webbed neck, box-shaped body habitus. Growth parameters: height of 144.6 cm (25th %ile), weight of 48.7 kg (91st-98th %ile), and head circumference of 51.5 cm (0.4th-2nd %ile). Family history: second child of healthy non-consanguineous White European parents; father noted to have dysmorphic features similar to the case, height of 164 cm (2nd-9th %ile), weight of 66.6 kg (25th-50th %ile), and head circumference of 55 cm (9th %ile), mild-moderate learning difficulties as a child, and surgically-treated congenital diaphragmatic hernia; mother had previous miscarriage at 10-weeks gestation and a still birth of unknown cause at 7-months gestation; healthy older sibling (presence or absence of paternally-inherited 13q31.3-q32.3 duplication not reported).
 Learning difficulties; case currently attends a mainstream school but is scheduled to attend a secondary school for children with learning disabilities
 92776868
 101047505
  8200000
 GRCh37/hg19
 Duplication
 No

Controls

No Control Data Available

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 atack_14_ASD_discovery_cases-case1
 
 Possibly paternal
 Paternal
 Possible multi-generational
 Unknown
 GPC5,GPC6,DCT,TGDS,GPR180,SOX21,ABCC4,CLDN10,DZIP1,DNAJC3,UGGT2,HS6ST3,OXGR1,MBNL2,RAP2A,IPO5,FARP1,RNF113B,STK24,SLC15A1,DOCK9,UBAC2,GPR18,GPR183,TM9SF2,CLYBL,ZIC5,ZIC2,PCCA
 

Controls

No Control Data Available
No Animal Model Data Available
HELP