GM22626
LCL from B-Lymphocyte
Description:
POTOCKI-SHAFFER SYNDROME
CHROMOSOME DELETION
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities Heritable Diseases dbGaP |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
ISCN
|
46,XY,del(11)(p11.2p11.2).arr 11p11.2p11.12(43962544-48849783)x1
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
|
Cytogenetics |
Chromosome 11: DELETION Aneuploid Segment (-)11p11.2>11p11.2 |
Demographic Data |
Relation to Proband |
proband |
Age at Sampling |
3 YR |
Sex |
Male |
|
Data Elements |
Clinical Element Type: Potocki-Shaffer Syndrome |
(Baseline) |
Inheritance |
Parental origin of del(11) |
Paternal |
Skull |
Parietal foramen |
Yes |
Brachycephaly |
Yes |
Turricephaly |
Unknown |
Craniofacial dysostosis |
Unknown |
Microcephaly |
Yes |
Large fontanel |
No |
Facial |
Aniridia |
No |
Sparse lateral eyebrows |
Yes |
Epicanthal folds |
Yes |
Prominent nasal bridge |
Yes |
Prominent nose |
Yes |
Short philtrum |
Yes |
Downturned mouth |
Yes |
Protuberant ears |
Yes |
Skeletal |
Short stature |
No |
Multiple exostoses |
Yes |
If yes, give age at detection in years |
1.5 |
Scoliosis |
No |
Osteochondroma |
No |
Limbs |
Cutaneous syndactyly between fingers 2 and 5 |
Unknown |
Brachydactyly |
Yes |
Neurological |
Developmental delay/mental retardation |
Yes |
Central nervous system malformation |
No |
Corpus callosum |
Unknown |
Sensorineural hearing loss |
Unknown |
Genitourinary |
Hypospadias |
Yes |
Cryptorchidism |
No |
Micropenis |
No |
Renal malformation |
No |
Wilms tumor |
No |
Remarks |
Clinically affected; parietal foramen; brachycephaly; microcephaly; sparse lateral eyebrows; epicanthal folds; prominent nasal bridge; prominent nose; short philtrum; downturned mouth; protuberant ears; multiple exostoses, detected at 18 months old; brachydactyly; developmental delay/mental retardation; hypospadius |
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 |
|
Wakui K, Gregato G, Ballif BC, Glotzbach CD, Bailey KA, Kuo PL, Sue WC, Sheffield LJ, Irons M, Gomez EG, Hecht JT, Potocki L, Shaffer LG, Construction of a natural panel of 11p112 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome European journal of human genetics : EJHG13:528-40 2005 |
PubMed ID: 15852040 |
Split Ratio |
1:2 |
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 |
- |
|