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NA50113 DNA from LCL

Description:

18Q- SYNDROME
CHROMOSOME DELETION

Affected:

No Data

Sex:

Female

Age:

No Data

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

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
Relation to Proband proband
Confirmation Karyotypic analysis after cell line submission to CCR
ISCN 46,XX,del(18)(q22).ish del(18)(q22)(18qtel11-).arr 18q22.1q23(61285826-76116029)x1
Species Homo sapiens
Common Name Human
Remarks Line JL143; mild 18q- syndrome [case 17 in Strathdee et al Am J Med Genet 59:476-483, 1995]; decreased growth; midface hypoplasia; prognathism; proximal thumbs; increased whorls on fingers; hypotonia; hearing loss; high or cleft lip/palate; parental line of hybrid GM14558

Characterizations

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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
 
Cytogenetics Chromosome 18: DELETION Aneuploid Segment (-)18q22>18qter

Phenotypic Data

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Remarks Line JL143; mild 18q- syndrome [case 17 in Strathdee et al Am J Med Genet 59:476-483, 1995]; decreased growth; midface hypoplasia; prognathism; proximal thumbs; increased whorls on fingers; hypotonia; hearing loss; high or cleft lip/palate; parental line of hybrid GM14558

Publications

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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
 
Strathdee G, Zackai EH, Shapiro R, Kamholz J, Overhauser J, Analysis of clinical variation seen in patients with 18q terminal deletions. Am J Med Genet59(4):476-83 1995
PubMed ID: 8585568
 
Kline AD, White ME, Wapner R, Rojas K, Biesecker LG, Kamholz J, Zackai EH, Muenke M, Scott CI Jr, Overhauser J, Molecular analysis of the 18q- syndrome--and correlation with phenotype. Am J Hum Genet52(5):895-906 1993
PubMed ID: 8488839
 
Kline AD, Rojas K, Mewar R, Moshinsky D, Overhauser J, Somatic cell hybrid deletion map of human chromosome 18. Genomics13:1-6 1992
PubMed ID: 1577474

External Links

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dbSNP dbSNP ID: 14822
NCBI GTR 601808 CHROMOSOME 18q DELETION SYNDROME
OMIM 601808 CHROMOSOME 18q DELETION SYNDROME
Omim Description CHROMOSOME 18q DELETION SYNDROME
  CHROMOSOME 18q- SYNDROME
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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How to Order
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  • GM50113 - B-Lymphocyte
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