X chromosome instability associated with familial Turner syndrome
- 28 June 2008
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 35 (2) , 111-115
- https://doi.org/10.1111/j.1399-0004.1989.tb02914.x
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
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