GM26089

GM26089 LCL from B-Lymphocyte

Description:

CHROMOSOME 15Q11-Q13 DUPLICATION SYNDROME
DUPLICATED CHROMOSOME

Affected:

Yes

Sex:

Male

Age:

21 MO (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Chromosome Abnormalities

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Subject Type

extended family

Ethnicity

Hispanic/Latino

Ethnicity

Mexican

Country of Origin

USA

Family Member

Family History

Relation to Proband

half-brother

Confirmation

Karyotypic analysis before cell line submission to CCR

ISCN

46,XY[23].arr[hg19] 15q11.2q13.1(23,641,501-28,560,804)x3

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; poor prenatal care; at birth had undescended testicles, has since resolved; frenulum on the upper lip between the central upper incisors; extra nipple; nose somewhat short; some mongolian spots on the back of buttocks and some on the back; one hypopigmented area on back of trunk on left thigh; poor eater; occasional night terrors; concern for ASD (moderate to severe; geneticist diagnosed 15q11.2q13.1 duplication through FISH; subject has 2 affected half siblings (GM26087 and GM26088) mother is bipolar and also suspected of being affected (not in repository); gluten and casein-free diet.

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Phenotypic Data

Demographic Data

Relation to Proband

half-brother

Age at Sampling

21 MO

Sex

Male

Hispanic or Latino/Not Hispanic or Latino

Hispanic/Latino

Racial Category

White

Country

USA

Data Elements

Clinical Element Type: General NIGMS Catalog Remarks

(Baseline)

Mutation Information

Age of Symptom Onset and Age at Diagnosis

In Utero History Information

Additional Information:

POOR PRENATAL CARE

Birth History Information

Additional Information:

UNDESCENDED TESTICLES (RESOLVED)

Dysmorphic Features

Additional Information:

FRENULUM ON THE UPPER LIP BETWEEN THE CENTRAL UPPER INCISORS SMALL HEMANGIOMA (RESOLVING) EXTRA NIPPLE SOME MONGOLIAN SPOTS

Neurological Symptoms

Optical and Audiological Symptoms

Musculoskeletal Symptoms

Developmental Milestones

Abnormal weight for age

Additional Information:

WEIGHT AT 5TH PERCENTILE

Gastrointestinal Symptoms

Genitourinary Symptoms

Respiratory and Cardiovascular Symptoms

Cognitive and Behavioral Symptoms

Autism spectrum disorder

Additional Information:

POOR EATER

Additional Information

Testing Performed

Treatments and Assistive Devices

Medications

GLUTEN, CASEIN-FREE DIET

Family History

SEGMENTAL DUPLICATION INHERITED FROM MOSAIC MOTHER. TWO AFFECTED HALF-SIBLINGS. MOTHER HAS SUBSTANCE ABUSE, ALCOHOL ABUSE AND BIPOLAR DISORDER.

Remarks

External Links

NCBI GTR

608636 CHROMOSOME 15q11-q13 DUPLICATION SYNDROME

OMIM

608636 CHROMOSOME 15q11-q13 DUPLICATION SYNDROME

Omim Description

AUTISM SUSCEPTIBILITY TO 4; AUTS4

Culture Protocols

Split Ratio

1:3

Temperature

37 C

Percent CO2

Percent O2

AMBIENT

Medium

Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent

Serum

15% fetal bovine serum Not Inactivated

Substrate

None specified

Subcultivation Method

dilution - add fresh medium

Supplement

Pricing

International/Commercial/For-profit:

$373.00USD

U.S. Academic/Non-profit/Government:

$216.00USD

Description:

CHROMOSOME 15Q11-Q13 DUPLICATION SYNDROME DUPLICATED CHROMOSOME

Affected:

Yes

Sex:

Male

Age:

21 MO (At Sampling)

Overview

Characterizations

Phenotypic Data

External Links

Culture Protocols

CHROMOSOME 15Q11-Q13 DUPLICATION SYNDROME
DUPLICATED CHROMOSOME