TY - JOUR
TI - Identification of high frequency of Y chromosome deletions in patients
with sex chromosome mosaicism and correlation with the clinical
phenotype and Y-chromosome instability
AU - Patsalis, PC
AU - Skordis, N
AU - Sismani, C
AU - Kousoulidou, L and
AU - Koumbaris, G
AU - Eftychi, C
AU - Stavrides, G
AU - Ioulianos, A and
AU - Kitsiou-Tzeli, S
AU - Galla-Voumvouraki, A
AU - Kosmaidou, Z and
AU - Hadjiathanasiou, CG
AU - McElreavey, K
JO - American Journal of Medical Genetics. Part A
PY - 2005
VL - 135A
TODO - 2
SP - 145-149
PB - Wiley
SN - 1552-4825, 1552-4833
TODO - 10.1002/ajmg.a.30712
TODO - sex chromosome mosaicism; Ullrich-Turner syndrome; Y deletions; AZF; Y
instability
TODO - 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. (c) 2005 Wiley-Liss, Inc.
ER -