Clinical and DNA studies on 46, XY females with gonadal dysgenesis. A report of six cases
Understanding the process of sex determination has been aided by the molecular analysis of individuals whose karyotype does not correspond to their phenotype, 46, XX males and 46, XY females. We studied the clinical and molecular data on six 46, XY females of Indian ethnic origin. In each subject, c...
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| Vydáno v: | Journal of reproductive medicine Ročník 41; číslo 4; s. 263 |
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| Hlavní autoři: | , , , , |
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| Jazyk: | angličtina |
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United States
01.04.1996
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| ISSN: | 0024-7758 |
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| Abstract | Understanding the process of sex determination has been aided by the molecular analysis of individuals whose karyotype does not correspond to their phenotype, 46, XX males and 46, XY females.
We studied the clinical and molecular data on six 46, XY females of Indian ethnic origin. In each subject, cytogenetic analysis indicated a 46, XY karyotype without mosaicism. In four of the cases DNA studies were performed on the sex-determining region, Y chromosome gene. A de novo point mutation was identified in one subject.
Our data provide additional evidence for genetic heterogeneity in the etiology of 46, XY gonadal dysgenesis. |
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| AbstractList | Understanding the process of sex determination has been aided by the molecular analysis of individuals whose karyotype does not correspond to their phenotype, 46, XX males and 46, XY females.
We studied the clinical and molecular data on six 46, XY females of Indian ethnic origin. In each subject, cytogenetic analysis indicated a 46, XY karyotype without mosaicism. In four of the cases DNA studies were performed on the sex-determining region, Y chromosome gene. A de novo point mutation was identified in one subject.
Our data provide additional evidence for genetic heterogeneity in the etiology of 46, XY gonadal dysgenesis. Understanding the process of sex determination has been aided by the molecular analysis of individuals whose karyotype does not correspond to their phenotype, 46, XX males and 46, XY females.BACKGROUNDUnderstanding the process of sex determination has been aided by the molecular analysis of individuals whose karyotype does not correspond to their phenotype, 46, XX males and 46, XY females.We studied the clinical and molecular data on six 46, XY females of Indian ethnic origin. In each subject, cytogenetic analysis indicated a 46, XY karyotype without mosaicism. In four of the cases DNA studies were performed on the sex-determining region, Y chromosome gene. A de novo point mutation was identified in one subject.CASESWe studied the clinical and molecular data on six 46, XY females of Indian ethnic origin. In each subject, cytogenetic analysis indicated a 46, XY karyotype without mosaicism. In four of the cases DNA studies were performed on the sex-determining region, Y chromosome gene. A de novo point mutation was identified in one subject.Our data provide additional evidence for genetic heterogeneity in the etiology of 46, XY gonadal dysgenesis.CONCLUSIONOur data provide additional evidence for genetic heterogeneity in the etiology of 46, XY gonadal dysgenesis. |
| Author | Bhargava, V L McElreavey, K Ammini, A C Kucheria, K Mohapatra, I |
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| SubjectTerms | Adolescent Adult DNA - analysis DNA - genetics European Continental Ancestry Group Female Gonadal Dysgenesis, 46,XY - diagnosis Gonadal Dysgenesis, 46,XY - etiology Gonadal Dysgenesis, 46,XY - genetics Humans India - ethnology Karyotyping Mutation Phenotype Polymerase Chain Reaction |
| Title | Clinical and DNA studies on 46, XY females with gonadal dysgenesis. A report of six cases |
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