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 |
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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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis after cell line submission to CCR
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ISCN
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46,XY,del(5)(p15.2p13.2).ish del(5)(p15.2p13.2)(C84C11T7+,D5S721+,D5S23+,EGR1+).arr 3q12.2(101822745-101925168)x3,5p15.2p13.2(10608361-35281220)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 |
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| Cytogenetics |
Chromosome 5: DELETION Aneuploid Segment (-)5p15>5p13 |
| Remarks |
Line JL88; at 5 years of age did not have a cat-like cry, did not display growth retardation or microcephaly, and was not hypotonic at birth; mild developmental delay; wide-set eyes and epicanthal folds, but both features were also found in his mother who had a normal karyotype; parental line of hybrid GM16599 |
| 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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| Goodart SA, Simmons AD, Grady D, Rojas K, Moyzis RK, Lovett M, Overhauser J, A yeast artificial chromosome contig of the critical region for cri-du-chat syndrome. Genomics24(1):63-8 1994 |
| PubMed ID: 7896290 |
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