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X chromosome instability associated with familial Turner syndrome
Authors:M. Tyrkus  W. H. Hoffman  K. M. Kraemer-Flynn
Affiliation:Department of Pathology, Wayne State University, Detroit, Michigan.
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.
Keywords:breakage    familial Turner syndrome
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