X-short arm deletion gonadal dysgenesis in two siblings due to unique translocation (Xp-;16p+) |
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| Authors: | John R. Davis M. Wayne Heine Elmer S. Lightner Harlan R. Giles Raymond F. Graap |
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| Affiliation: | Departments of Pathology, Obstetrics and Gynecology, and Pediatrics, University of Arizona College of Medicine, and The Division of Endocrinology, Pima County Hospital, Tucson, Arizona, U.S.A. |
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| Abstract: | A family demonstrating short arm deletion of the X chromosome as a consequence of X-16 balanced translocation in the mother is reported. The two Xp- sisters exhibit clinical signs of gonadal dysgenesis, while the balanced carriers are phenotypically normal. To our knowledge this represents the only example of both the balanced carrier state for an X translocation and its genetic consequence occurring in the offspring, as well as the involvement of X-16 interchange. Literature data of 37 additional cases of verified X translocations are discussed. |
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