Description:
DIGEORGE SYNDROME; DGS
COPY NUMBER VARIATION (CNV) REFERENCE PANEL
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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 |
Disorders of Uncertain Biochemical Etiology |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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Hispanic/Latino
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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis after cell line submission to CCR
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ISCN
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46,XY[20].arr[GRCh37] 22q11.21(18748427_21611337)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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| CNVPANEL |
For more information click here:CNVPANEL01 |
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| Remarks |
Clinically affected; interrupted aortic arch; ventricular septal defect; hypocalcemia; characteristic facies |
| Bellair M, Amaral E, Ouren M, Roark C, Kim J, O'Connor A, Soriano A, Schindler ML, Wapner RJ, Stone JL, Tavella N, Merriam A, Perley L, Breman AM, Beaudet AL, Noninvasive single-cell-based prenatal genetic testing: A proof of concept clinical study Prenatal diagnosis44:304-316 2024 |
| PubMed ID: 38411249 |
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| Caballero M, Ge T, Rebelo AR, Seo S, Kim S, Brooks K, Zuccaro M, Kanagaraj R, Vershkov D, Kim D, Smogorzewska A, Smolka M, Benvenisty N, West SC, Egli D, Mace EM, Koren A, Comprehensive analysis of DNA replication timing across 184 cell lines suggests a role for MCM10 in replication timing regulation Human molecular genetics44:304-316 2021 |
| PubMed ID: 35394024 |
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| Kucharik M, Gnip A, Hyblova M, Budis J, Strieskova L, Harsanyova M, Pös O, Kubiritova Z, Radvanszky J, Minarik G, Szemes T, Non-invasive prenatal testing (NIPT) by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions PloS one15:e0238245 2020 |
| PubMed ID: 32845907 |
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| 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 |
| dbSNP |
dbSNP ID: 23006 |
| 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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