GM23813
LCL from B-Lymphocyte
Description:
CHROMOSOME 15Q11-Q13 DUPLICATION SYNDROME
DUPLICATED CHROMOSOME
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities
Heritable Diseases |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Race
|
White
|
|
Ethnicity
|
Hispanic/Latino
|
|
Ethnicity
|
SOUTH AMERICAN/SPANISH/GERMAN
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
ISCN
|
46,XY.arr 15q11.2q13.1(21192942-26752944)x3
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Remarks |
Clinically affected; diagnosed at 5 months of age; cortical visual impairment; high astigmatism; exotropia; cleft lip and palate with repair; camptodactyly of the third and fifth fingers; broad epicanthal folds; low, flattened nasal bridge; small muscular ventricular septal defect and small atrial septal defect, both closed by 6 months of age; mild conductive hearing loss; developmental delay; hypotonia; craniosynostosis with cranial vault remodeling; some facial asymmetry-decreased movement on the left; seizure disorder; sits with moderate support, rolls from back to left side, reflux, frequent hiccups, sleep disruption;MRI of Brain without IVC showed mild-moderate ventriculomegaly, primarily involving the lateral and third ventricles. Bilateral middle cranial fossa arachnoid cysts, left greater than right; uses braces, orthotics and wheelchair; uses Bipap to treat sleep apnea; wears glasses and has intermittent strabismus; antiseizure medication and lactogenic diet; arr CGH result: 15q11.2 (RP11-385H1->RP1114I12)x3 |
| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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 |
- |
|
|