NA10394
DNA from Fibroblast
Description:
DUPLICATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
| Quantity |
50 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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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
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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,der(3)(qter>p25::q21>qter)
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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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| Passage Frozen |
1 |
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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 3: DELETION Aneuploid Segment (+)3q21>3qter |
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Chromosome 3: DELETION Aneuploid Segment (-)3pter>3p25 |
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Chromosome 3: DELETION Trisomic Segment 3q21>3qter |
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Chromosome 3: DUPLICATION Aneuploid Segment (+)3q21>3qter |
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Chromosome 3: DUPLICATION Aneuploid Segment (-)3pter>3p25 |
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Chromosome 3: DUPLICATION Trisomic Segment 3q21>3qter |
| Remarks |
Multiple congenital anomalies including cleft palate, microcephaly, dislocated left hip, hypertelorism, left hemifacial microsomia, pulmonic stenosis, & nasolacrimal duct stenosis; mental retardation; see GM11428 Lymphoid |
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