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Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y‐chromosome instability
Author(s) -
Patsalis Philippos C,
Skordis Nicos,
Sismani Carolina,
Kousoulidou Ludmila,
Koumbaris George,
Eftychi Christina,
Stavrides George,
Ioulianos Antonis,
KitsiouTzeli Sophia,
GallaVoumvouraki Angeliki,
Kosmaidou Zoe,
Hadjiathanasiou Charalambos G,
McElreavey Ken
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30712
Subject(s) - biology , karyotype , genetics , chromosome , fluorescence in situ hybridization , y chromosome , chromosome 22 , chromosome instability , microbiology and biotechnology , marker chromosome , gene
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, diagnosis, and Y‐chromosome instability. We studied 17 clinically well‐characterized mosaic patients whose karyotype consisted of a 45,X cell line and a second cell line containing a normal or an abnormal Y chromosome. The presence of the Y chromosome centromere was verified by fluorescence in situ hybridization (FISH) and was then characterized by 44 Y‐chromosome specific‐sequence tagged site (STS) markers. This study identifies a high frequency of Yq chromosome deletions (47%). The deletions extend from interval 5 to 7 sharing a common deleted interval (6F), which overlaps with the azoospermia factor region (AZF) region. This study finds no association between Y‐chromosome loci hosting genes other than SRY , and the phenotypic sex, the diagnosis, and the phenotype of the patients. Furthermore, this study shows a possible association of these deletions with Y‐chromosome instability. © 2005 Wiley‐Liss, Inc.