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NA09208 DNA from Fibroblast

Description:

MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS
CHROMOSOME DELETION

Affected:

No Data

Sex:

Male

Age:

18 FW (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
Class Disorders of the Nervous System
Quantity 50 µg
Quantitation Method Please see our FAQ
Cell Type Fibroblast
Transformant Untransformed
Sample Source DNA from Fibroblast
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 46,XY,del(17)(:p13.1->qter)
Species Homo sapiens
Common Name Human
Remarks Diaphragm fibroblast culture; microcephaly; lissencephaly; anteverted nares; ear abnormalities; micrognathia; clinodactyly; sacral dimple; hydrocephalus; severe cerebral atrophy; poor development of frontal and temporal lobes; cerebellum poorly developed; 46,XY,del(17) (qter>p13.1:); see GM09209 lung fibroblast culture and GM09210 testis fibroblast culture from this same fetus

Characterizations

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Passage Frozen 3
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis
 
Cytogenetics Chromosome 17: DELETION Aneuploid Segment (-)17pter>17p13

Phenotypic Data

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Remarks Diaphragm fibroblast culture; microcephaly; lissencephaly; anteverted nares; ear abnormalities; micrognathia; clinodactyly; sacral dimple; hydrocephalus; severe cerebral atrophy; poor development of frontal and temporal lobes; cerebellum poorly developed; 46,XY,del(17) (qter>p13.1:); see GM09209 lung fibroblast culture and GM09210 testis fibroblast culture from this same fetus

Publications

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Peiffer DA, Le JM, Steemers FJ, Chang W, Jenniges T, Garcia F, Haden K, Li J, Shaw CA, Belmont J, Cheung SW, Shen RM, Barker DL, Gunderson KL, High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping Genome research16:1136-48 2006
PubMed ID: 16899659

External Links

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dbSNP dbSNP ID: 11231
Gene Cards MDCR
NCBI Gene Gene ID:4186
NCBI GTR 247200 MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS
OMIM 247200 MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS
Omim Description MDSMILLER-DIEKER SYNDROME CHROMOSOME REGION, INCLUDED; MDCR, INCLUDED
  MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS
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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