Article
Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y-chromosome instability.
American journal of medical genetics. Part A - 1 Jun 2005
Patsalis Philippos C, Skordis Nicos, Sismani Carolina, Kousoulidou Ludmila, Koumbaris George, Eftychi Christina, Stavrides George, Ioulianos Antonis, Kitsiou-Tzeli Sophia, Galla-Voumvouraki Angeliki, Kosmaidou Zoe, Hadjiathanasiou Charalambos G, McElreavey Ken
Abstract excerpt
A mosaic karyotype consisting of a 45,X cell line and a second cell line containing a normal or an abnormal Y chromosome is relatively common and is associated with a wide spectrum of clinical phenotypes. The aim of this study was to investigate patients with such a mosaic karyotype for Y chromosome material loss and then study the possible association of the absence of these regions with the phenotype,...
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