| Literature DB >> 50265 |
C Laurent, M C Biemont, B Dutrillaux.
Abstract
Four new cases of translocations involving the X chromosome are reported. The first is a balanced t(1;X) observed in an abnormal girl. In most of the cells, the normal X is inactivated. The second case is a woman with oligomenorrhea, who has had two spontaneous abortions. She carries an umbalanced t(X-autosome). In all cells, the abnormal X, including the autosomal segment, is inactivated. The third and fourth cases are a mother, and her son. The mother has oligomenorrhea, carries a t(X,X), and has a karyotype of 46,X,+der t(X;X) and that of her son is 47,XY,+der t(X;X) and shows behavioral abnormalities. The abnormal X chromosome is inactivated in all the cells analyzed.Entities:
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Year: 1975 PMID: 50265 DOI: 10.1007/bf00280283
Source DB: PubMed Journal: Humangenetik ISSN: 0018-7348