Copy Number Variants / 13q31.3-q32.3

13q31.3-q32.3

Type
Duplication
Average Length
8200000
Range
92776868-101047505
Associated Human Genes
-
Associated Animal Models
-
Autism Reports
1
Populations
1 (1 case / 0 control)
Individuals
1 (1 case / 0 control)
Summary

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).

Reports related to 13q31.3-q32.3 (1 Reports)
# Type Title Author, Year
1 Minor A novel (paternally inherited) duplication 13q31.3q32.3 in a 12-year-old patient with facial dysmorphism and developmental delay. Atack E , et al. (2014)
Show all Case Details Show all Cohort Details

13q31.3-q32.3

Description:

Second child of healthy, non-consanguineous parents referred to Clinical Genetics service (Sheffield Children's NHS Foundation Trust, Sheffield UK)

Diagnosis:

Learning difficulties, autistic spctrum disorder (diagnostic tools N/A), unexplained muscle cramps with no evidence of a myopathy, and dysmorphic features

Atack E , et al. (2014)
Cohort Size: 1

Age Min: 144
Age Max: 144
Average: 144

Male: 100
Female: -
Unknown: -
CNV Size: 8200000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

Platform: Oxford Gene Technologies 8x60K ISCA
Software: BlueGnome BlueFuse-Multi v3.0
Algorithm: -
Geographical Ancestry: White European
Show all Case Details Show all Cohort Details

atack_14_ASD_discovery_cases-case1

Clinical Profile:

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).

Cognitive Profile:

Learning difficulties; case currently attends a mainstream school but is scheduled to attend a secondary school for children with learning disabilities

Atack E , et al. (2014)
Primary Diagnosis: ASD and learning difficulties

Age: 12 yrs.

Gender: M
Primary Disorder Inheritence: Possibly paternal

Family Profile: Possible multi-generational
CNV Start: 92124615
CNV End: 100395251
CNV Size: 8200000
Validation Description: -
Primary Disorder Inheritence: Possibly paternal
CNV Inheritance: Paternal
Family Profile: Possible multi-generational
Genome Build: GRCh38
Gene Content: FABP5P4, MIR548AS, LINC00363, HNRNPA1P29, RNA5SP35, RNA5SP36, RN7SL585P, LINC00391, SOX21, BRD7P5, RPL21P112, LINC00557, RNU6-62P, RNY3P8, RNY4P27, MEMO1P5, MTND5P2, MTND6P18, MTCYBP3, HMGN1P24, RN7SL164P, MIR4501, AMMECR1LP1, HSP90AB6P, RN7SKP7, RNA5SP37, PSMA6P4, RPL7AP61, FTLP8, RNF113B, RN7SKP8, MIR3170, FARP1-AS1, STK24-AS1, NUS1P4, CYCSP35, CALM2P4, RN7SL60P, DOCK9-AS1, RPL7L1P12, RNU6-83P, DOCK9-AS2, RPS6P23, GAPDHP22, UBAC2-AS1, RN7SKP9, H2AFZP3, GPR18, MIR623, HMGB3P4, CCR12P, LINC01232, LINC01039, CFL1P8, MIR4306, CLYBL-AS2, CLYBL-AS1, ZIC5, ZIC2, LINC00554, NDUFA12P1, ASNSP3, RPL15P18, GPC5-AS2, GPC5-IT1, GPC5-AS1, GPC6-AS2, GPC6-AS1, DCT, TGDS, SOX21-AS1, CLDN10-AS1, DZIP1, DNAJC3-AS1, TULP3P1, LINC00456, RAP2A, IPO5, GPR183, LINC00449, TM9SF2, GPR180, ABCC4, CLDN10, DNAJC3, UGGT2, OXGR1, MBNL2, FARP1, SLC15A1, DOCK9, UBAC2, PCCA, GPC6, HS6ST3, STK24, CLYBL, GPC5
Show all Control Details Show all Cohort Details

No control populations reported.

Show all Control Details Show all Cohort Details

No control individuals reported.

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