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NA02944 DNA from Fibroblast

Description:

DIGEORGE SYNDROME; DGS
TRANSLOCATED CHROMOSOME

Affected:

Yes

Sex:

Male

Age:

2 WK (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Chromosome Abnormalities
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,+der(20)t(20;22)(q11.2;q11.2),-22.arr[hg19]20p13p11.1(61662-26305567)x3,22q11.1q11.21(16864885-20311905)x1
Species Homo sapiens
Common Name Human
Remarks Clinically affected; unbalanced chromosome translocation and DiGeorge syndrome; double outlet right ventricle.

Characterizations

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PDL at Freeze 5.55
Passage Frozen 7
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Chromosome Analysis
 
Cytogenetics Chromosome 20: DERIVATIVE CHROMOSOME Aneuploid Segment (+)20pter>20q11
Chromosome 20: DERIVATIVE CHROMOSOME Trisomic Segment 20pter>20q11
Chromosome 22: DERIVATIVE CHROMOSOME Aneuploid Segment (-)22pter>22q11

Phenotypic Data

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Remarks Clinically affected; unbalanced chromosome translocation and DiGeorge syndrome; double outlet right ventricle.

Publications

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Walters-Sen L, Neitzel D, Bristow SL, Mitchell A, Alouf CA, Aradhya S, Faulkner N, Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assay Reproductive biomedicine online44:228-238 2021
PubMed ID: 35039224
 
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
 
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

External Links

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dbSNP dbSNP ID: 14787
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
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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