| Autor: |
Dobek, Whitney A., Kim, Hyung-Goo, Walls, Cedric A., Chorich, Lynn P., Tho, Sandra P.T., Zi-Xuan Wang, McDonough, Paul G., Layman, Lawrence C. |
| Předmět: |
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| Zdroj: |
Molecular Cytogenetics (17558166); 2015, Vol. 8 Issue 1, p1-10, 10p |
| Abstrakt: |
Background: Females with Xp;Yq translocations manifest short stature and normal fertility, but rarely have follow-up. The study purpose was to define the phenotype of a family with t(X;Y)(p22.3;q11.2), determine long-term reproductive function, and compare to all reported female cases. Methods: Comprehensive clinical and molecular analyses were performed on the female proband, who had regular menses, normal endocrine function, and three pregnancies spanning seven years-a normal liveborn male and two with unbalanced translocations (liveborn female and stillborn male). Results: The translocation truncated KAL1 and deleted 44 genes on der(X). Our report constitutes the longest follow-up of an X;Y translocation female. She had no evidence of Kallmann syndrome, gonadoblastoma, or cardiovascular disease. Detailed analysis of 50 published female cases indicated a uniform lack of follow-up and significant morbidity--intellectual disability (10%), facial dysmorphism (28%), eye abnormalities (14%), and skeletal defects (28%) Conclusions: Our findings indicate normal ovarian function to date in a woman with an t(X;Y)(p22.3;q11.2). However, additional published studies in the literature suggest careful follow-up is necessary and contradict the generalization that females with Xp;Yq translocations are usually normal except for short stature. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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