NA05876
DNA from Fibroblast
Description:
DIGEORGE SYNDROME; DGS
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
dbGaP |
| Class |
Other Disorders of Known Biochemistry |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
ISCN
|
46,XY[22].arr[hg19] 22q11.21(18,877,786-20,311,905)x1
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
7.22 |
| Passage Frozen |
8 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| GENE MAPPING & DOSAGE STUDIES - CHROMOSOME 22 |
FISH analysis with probe N25 for the DiGeorge Syndrome critical region, D22S75, performed by Dr. Deborah Driscoll, Children's Hospital of Philadelphia, showed that this cell culture had a deletion in this region. |
| |
| Cytogenetics |
Chromosome 22: DELETION Aneuploid Segment (-)22q11>22q11 |
| Remarks |
46,XY in lymphocytes; clinically affected; heart abnormalities seen on autopsy include interrupted aortic arch (type B) with isolation of right subclavian artery, malalignment type ventricular septal defect with subaortic obstruction plus discrete fibrous subaortic stenosis, bicuspid aortic valve with rudimentary coronary commissure; thymic aplasia; lymphopenia; hypocalcemia with absent parathyroids; seizures; small ears; possible facial palsy. |
| Goh CJ, Kwon HJ, Kim Y, Jung S, Park J, Lee IK, Park BR, Kim MJ, Kim MJ, Lee MS, Improving CNV Detection Performance in Microarray Data Using a Machine Learning-Based Approach Diagnostics (Basel, Switzerland)14: 2023 |
| PubMed ID: 38201393 |
| |
| 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 |
| |
| Driscoll DA, Budarf ML, Emanuel BS, A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am J Hum Genet50:924-33 1992 |
| PubMed ID: 1349199 |
| dbSNP |
dbSNP ID: 22773 |
| NCBI Gene |
Gene ID:1714 |
| NCBI GTR |
188400 DIGEORGE SYNDROME; DGS |
| OMIM |
188400 DIGEORGE SYNDROME; DGS |
| Omim Description |
CATCH22, INCLUDED |
| |
CONOTRUNCAL ANOMALY FACE SYNDROME, INCLUDED |
| |
DIGEORGE SYNDROME; DGS |
| |
HYPOPLASIA OF THYMUS AND PARATHYROIDS |
| |
SHPRINTZEN VCF SYNDROME, INCLUDED |
| |
TAKAO VCF SYNDROME, INCLUDED |
| |
THIRD AND FOURTH PHARYNGEAL POUCH SYNDROMEDIGEORGE SYNDROME CHROMOSOME REGION, INCLUDED; DGCR, INCLUDED |
| |
VELOCARDIOFACIAL SYNDROME, INCLUDED |
|