Description:
CRI-DU-CHAT SYNDROME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
| 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,XX,ins(16;5)(16pter>16q22::5p15.3>5p14.2::16q22>16qter;5pter>5p15.3::5p14.2>5qter).ish ins(16;5)(D5S721+,D5S23+,EGR1-,16QTELO13+,C84C11/T3-;D5S721-,D5S23-,EGR1+,C84C11/T3+,16QTELO13-)
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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 16: INSERTION Breakpoint 16q22 ins(16;5)16q22 |
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Chromosome 5: INSERTION Breakpoint 5p14 ins(16;5)5p14 |
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Chromosome 5: INSERTION Breakpoint 5p15 ins(16;5)5p15 |
| Remarks |
Line JL442; mother of a child with Cri-du-Chat syndrome; parental line for hybrid GM16589 |
| Marinescu RC, Mamunes P, Kline AD, Schmidt J, Rojas K, Overhauser J, Variability in a family with an insertion involving 5p. Am J Med Genet86(3):258-63 1999 |
| PubMed ID: 10482876 |
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