Description:
CRI-DU-CHAT SYNDROME
CHROMOSOME DELETION
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities
dbGaP |
| 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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ISCN
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46,XX,del(5)(p15.3).ish del(5)(p15.3)(C84C11/T3-,D5S23/D5S721+,EGR-1+,D5S2907+).arr 5p15.33p15.31(68519-7062418)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 |
| |
| Cytogenetics |
Chromosome 5: DELETION Aneuploid Segment (-)5pter>5p15 |
| Remarks |
Line JL333; unusual cry; small head; systolic heart murmur; epicanthic folds; downward slanting palpebral fissures; no mental or developmental delay; mother also carries the deletion |
| 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 |
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| Gersh M, Goodart SA, Pasztor LM, Harris DJ, Weiss L, Overhauser J, Evidence for a distinct region causing a cat-like cry in patients with 5p deletions. Am J Hum Genet56(6):1404-10 1995 |
| PubMed ID: 7762563 |
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