Description:
DIGEORGE SYNDROME; DGS
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities
dbGaP |
| Class |
Other Disorders of Known Biochemistry |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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ISCN
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45,XY,der(3)t(3;22)(q29;q11.2),-22[18]
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| PDL at Freeze |
5.5 |
| Passage Frozen |
4 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Cytogenetics |
Chromosome 22: DERIVATIVE CHROMOSOME Aneuploid Segment (-)22pter>22q11 |
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Chromosome 3: DERIVATIVE CHROMOSOME Aneuploid Segment (-)3q29>3qter |
| Remarks |
Clinically affected; unbalanced chromosome translocation and DiGeorge syndrome; recurrent episodes of otitis media; absent thymus; absent parathyroid glands; bilateral cleft lip and palate; bifid uvula; hypertelorism; ears are large, low-set, scooped out and anteriorly displaced with poorly formed ear lobes; beaked nose with flattening of the nasal bridge; absent philtrum; flattened chest; widely spaced nipples; external rotation of lower extremities; sacrococcygeal dimple; heart abnormalities as seen on autopsy include transposition of the great vessels, atresia of pulmonary valve, right aortic arch, right thoracic descending aorta, ventricular septal defect, atrial septal defect in position of the foramen ovale; brain findings on autopsy include malformation of cerebral lobes, with shortening of the anterior frontal and temporal lobes; peripheral lymph nodes with hypoplastic paracortical zones; small kidneys with some sclerosed glomeruli and foci of lymphocytic infiltration in the subcapsular renal cortex; extensive metastatic calcification of the kidneys; focal calcification of the media of the aorta and pulmonary artery. |
| 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 |
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| Spiteri E, Babcock M, Kashork CD, Wakui K, Gogineni S, Lewis DA, Williams KM, Minoshima S, Sasaki T, Shimizu N, Potocki L, Pulijaal V, Shanske A, Shaffer LG, Morrow BE, Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes. Hum Mol Genet12(15):1823-37 2003 |
| PubMed ID: 12874103 |
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| ten Hoeve J, Morris C, Poustka A, Groffen J, Heisterkamp N, Isolation of NotI sites from chromosome 22q11. Genomics18:588-97 1993 |
| PubMed ID: 7905853 |
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| Schuchman EH, Astrin KH, Aula P, Desnick RJ, Regional assignment of the structural gene for human alpha-L- iduronidase. Proc Natl Acad Sci U S A81:1169-73 1984 |
| PubMed ID: 6422468 |
| dbSNP |
dbSNP ID: 21227 |
| NCBI Gene |
Gene ID:1714 |
| NCBI GTR |
188400 DIGEORGE SYNDROME; DGS |
| OMIM |
188400 DIGEORGE SYNDROME; DGS |
| Omim Description |
CATCH22, INCLUDED |
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CONOTRUNCAL ANOMALY FACE SYNDROME, INCLUDED |
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DIGEORGE SYNDROME; DGS |
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HYPOPLASIA OF THYMUS AND PARATHYROIDS |
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SHPRINTZEN VCF SYNDROME, INCLUDED |
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TAKAO VCF SYNDROME, INCLUDED |
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THIRD AND FOURTH PHARYNGEAL POUCH SYNDROMEDIGEORGE SYNDROME CHROMOSOME REGION, INCLUDED; DGCR, INCLUDED |
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VELOCARDIOFACIAL SYNDROME, INCLUDED |
| Passage Frozen |
4 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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