NA05401
DNA from Fibroblast
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 |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from Fibroblast
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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(4)t(4;22)(q35;q11.2)mat,-22.arr 4q35.2(191074864-191254119)x1,22q11.1q11.21(15037288-18401938)x1
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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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| Passage Frozen |
3 |
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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 4: DERIVATIVE CHROMOSOME Aneuploid Segment (-)4q35>4qter |
| Remarks |
Clinically affected; unbalanced familial chromosome translocation and partial DiGeorge syndrome; truncus arteriosus, type I; T-cell dysfunction; micrognathia; high-arched palate; downslanting palpebral fissures; broad nasal bridge; broad philtrum; normal parathyroid function; paternal chromosomes 46,XY; mother found to have the same unbalanced translocation as affected child; first son born to the mother died at 2 months of age and was thought to have a congenital heart defect; second son born to the mother died at 11 months of age and autopsy found Type I truncus arteriosus, thymic aplasia, and parathyroid hypoplasia. |
| 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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| Kormanik K, Kang H, Cuebas D, Vockley J, Mohsen AW, Evidence for involvement of medium chain acyl-CoA dehydrogenase in the metabolism of phenylbutyrate Molecular genetics and metabolism107:684-9 2012 |
| PubMed ID: 23141465 |
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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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| Funke B, Edelmann L, McCain N, Pandita RK, Ferreira J, Merscher S, Zohouri M,
Cannizzaro L, Shanske A, Morrow BE, Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a
1.5-Mb region of overlap on chromosome 22q11. Am J Hum Genet64(3):747-58 1999 |
| PubMed ID: 10053009 |
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| Clepet C, Schafer AJ, Sinclair AH, Palmer MS, Lovell-Badge R, Goodfellow PN, The human SRY transcript. Hum Mol Genet2:2007-12 1993 |
| PubMed ID: 8111368 |
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| Halford S, Lindsay E, Nayudu M, Carey AH, Baldini A, Scambler PJ, Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11. Hum Mol Genet2:191-6 1993 |
| PubMed ID: 8499906 |
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| Lindsay EA, Halford S, Wadey R, Scambler PJ, Baldini A, Molecular cytogenetic characterization of the DiGeorge syndrome region using fluorescence in situ hybridization. Genomics17:403-7 1993 |
| PubMed ID: 8406492 |
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| Sharkey AM, McLaren L, Carroll M, Fantes J, Green D, Wilson D, Scambler PJ, Evans HJ, Isolation of anonymous DNA markers for human chromosome 22q11 from a flow-sorted library, and mapping using hybrids from patients with DiGeorge syndrome. Hum Genet89:73-8 1992 |
| PubMed ID: 1577468 |
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| Cannizzaro LA, Emanuel BS, In situ hybridization and translocation breakpoint mapping. III. DiGeorge syndrome with partial monosomy of chromosome 22. Cytogenet Cell Genet39:179-83 1985 |
| PubMed ID: 3930157 |
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| Greenberg F, Crowder WE, Paschall V, Colon-Linares J, Lubianski B, Ledbetter DH, Familial DiGeorge syndrome and associated partial monosomy of chromosome 22. Hum Genet65:317-9 1984 |
| PubMed ID: 6693120 |
| dbSNP |
dbSNP ID: 18803 |
| 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 |
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