Description:
TRANSLOCATED CHROMOSOME
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 |
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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Family Member
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1
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Relation to Proband
|
proband
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XY,der(7)t(X;7)(p21.3;p22).ish der(7)t(X;7)(p21.3;p22)(STS+,wcpX+,D7S589+).arr Xp22.33p21.1(320107-34423083)x2,7p22.3(174345-886181)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 |
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Cytogenetics |
Chromosome 7: DERIVATIVE CHROMOSOME Aneuploid Segment (-)7pter>7p22 |
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Chromosome X: DERIVATIVE CHROMOSOME Aneuploid Segment (+)Xpter>Xp21 |
Remarks |
Diagnosed as pseudohermaphrodite at birth; denovo; phenotypic female with vaginal stenosis which was repaired and recontructed; karyotype is male; parents karyotypes are normal; exploratory operation of genitalia showed true hermaphroditism; retarded development; now lives in group home; older sibling died of La Flora disease at 20 years of age |
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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