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Clin Genet. 1989 Feb;35(2):111-5.

X chromosome instability associated with familial Turner syndrome.

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Department of Pathology, Wayne State University, Detroit, Michigan.


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.

[Indexed for MEDLINE]

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