X chromosome instability associated with familial Turner syndrome |
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Authors: | M. Tyrkus W. H. Hoffman K. M. Kraemer-Flynn |
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Affiliation: | Department of Pathology, Wayne State University, Detroit, Michigan. |
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Abstract: | ![]() A family with two members (two generations) exhibiting Turner syndrome is described. Cytogenetic studies on these individuals showed the presence of multiple X chromosome changes. Evidence is presented to show that the maternally inherited X chromosome is the chromosome involved in the structural alterations observed. The effect of a tendency of the maternal X chromosome to break at specific sites on the development of the Turner phenotype and abnormal karyology is discussed. |
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Keywords: | breakage familial Turner syndrome |
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