NA20486
DNA from Fibroblast
Description:
CHIMERA, 46,XY/46,XX
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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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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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis before cell line submission to CCR
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ISCN
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46,XX[30]/46,XY[20]
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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 |
6 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Remarks |
Clinically affected; true hermaphrodite chimera; ambiguous genitalia noted via ultrasound at 22 weeks gestation; amniocentesis result showed 46,XX/46,XY on two occasions as did cordocentesis; delivery occurred at 37 weeks gestation; birth weight was 3625 g; ambiguous genitalia at birth characterized by clitoromegaly, prominent labia majora, apparent fusion of the labia, an orifice of the urogenital sinus, and palpable gonads in the bilateral inguinal areas; cystoscopic inspection through opening of urogenital sinus detected a urethral orifice, vagina, and cervix; lymphangioma over right arm; 46,XX/46,XY found on tissues including skin, placenta, and amniotic membrane; normal parental karyotypes; polymorphic DNA marker analysis revealed double paternal and single maternal contributions. |
| Chen CP, Chern SR, Sheu JC, Lin SP, Hsu CY, Chang TY, Lee CC, Wang W, Chen HE, Prenatal diagnosis, sonographic findings and molecular genetic analysis of a 46,XX/46,XY true hermaphrodite chimera. Prenat Diagn25(6):502-6 2005 |
| PubMed ID: 15966046 |
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