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NA50324 DNA from LCL

Description:

CHROMOSOME DELETION
DUPLICATED CHROMOSOME
COPY NUMBER VARIATION (CNV) REFERENCE PANEL 02

Affected:

No Data

Sex:

Male

Age:

11 MO (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • Images

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Chromosome Abnormalities
dbGaP
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Family History N
Relation to Proband proband
Confirmation Karyotypic analysis after cell line submission to CCR
ISCN 46,XY,der(1)dup(1)(q41q43)del(1)(q43).ish der(1)dup(1)(q41q43)del(1)(q43)(CEB108/T7+,D1S2728-).arr 1q41q43(220640801-236223828)x3,1q43q44(236225618-247190999)x1,2q13(110125518-110337635)x1,13q34(112341486-112877092)x3
Species Homo sapiens
Common Name Human
Remarks Small for gestational age; small head; enlarged anterior fontanel; separated metopic suture; prominent forehead; downslanting palpebral fissures; abnormal ears; migrognathia; short sternum; right camptodactyly; bilateral clinodactyly of the fifth finger; prominent heels; sacral dimple; ventricular septal defect; patent ductus arteriosus; pulmonary stenosis; failure to thrive; severe global developmental delay; bilateral simian crease; deceased at age 11 months

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin confirmed by LINE assay
 
Cytogenetics Chromosome 1: DELETION Aneuploid Segment (-)1q43>1qter
Chromosome 1: DUPLICATION Aneuploid Segment (+)1q42>1q43

Phenotypic Data

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Remarks Small for gestational age; small head; enlarged anterior fontanel; separated metopic suture; prominent forehead; downslanting palpebral fissures; abnormal ears; migrognathia; short sternum; right camptodactyly; bilateral clinodactyly of the fifth finger; prominent heels; sacral dimple; ventricular septal defect; patent ductus arteriosus; pulmonary stenosis; failure to thrive; severe global developmental delay; bilateral simian crease; deceased at age 11 months

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
 
Mewar R, Harrison W, Weaver DD, Palmer C, Davee MA, Overhauser J, Molecular cytogenetic determination of a deletion/duplication of 1q that results in a trisomy 18 syndrome-like phenotype. Am J Med Genet52(2):178-83 1994
PubMed ID: 7802005

Images

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View FISH Spectrum Green detects 1pter / Spectrum Orange detects 1qter
karyotype Spectrum Green detects 1pter / Spectrum Orange detects 1qter
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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  • GM50324 - B-Lymphocyte
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