Τίτλος:
Identification of high frequency of Y chromosome deletions in patients
with sex chromosome mosaicism and correlation with the clinical
phenotype and Y-chromosome instability
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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.
Συγγραφείς:
Patsalis, PC
Skordis, N
Sismani, C
Kousoulidou, L and
Koumbaris, G
Eftychi, C
Stavrides, G
Ioulianos, A and
Kitsiou-Tzeli, S
Galla-Voumvouraki, A
Kosmaidou, Z and
Hadjiathanasiou, CG
McElreavey, K
Περιοδικό:
American Journal of Medical Genetics. Part A
Λέξεις-κλειδιά:
sex chromosome mosaicism; Ullrich-Turner syndrome; Y deletions; AZF; Y
instability
DOI:
10.1002/ajmg.a.30712
