Description:
TRANSLOCATED CHROMOSOME
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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Race
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White
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Ethnicity
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HISPANIC
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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(2)(q24.2q31),t(3;5)(p23;p13).ish t(3;5)(p23;p13)(D5S23+;D5S23-).arr 2q24.2q24.3(161817925-165352791)x1,2q24.3q31.1(165890035-170248060)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 and by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 2: DELETION Aneuploid Segment (-)2q23>2q24 |
| Remarks |
De novo translocation; floppy, slow & weak suck, & weak cry at birth; unusual cry; at 11 mo developed a seizure disorder; at 16 mo developed apnea; severe psychomotor developmental delay; no speech; questionable cri-du-chat syndr |
| 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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| Kirchhoff M, Rose H, Lundsteen C, High resolution comparative genomic hybridisation in clinical cytogenetics. J Med Genet38(11):740-4 2001 |
| PubMed ID: 11694545 |
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