@article{3094145,
    title = "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 = "Patsalis, PC and Skordis, N and Sismani, C and Kousoulidou, L and and Koumbaris, G and Eftychi, C and Stavrides, G and Ioulianos, A and and Kitsiou-Tzeli, S and Galla-Voumvouraki, A and Kosmaidou, Z and and Hadjiathanasiou, CG and McElreavey, K",
    journal = "American Journal of Medical Genetics. Part A",
    year = "2005",
    volume = "135A",
    number = "2",
    pages = "145-149",
    publisher = "Wiley",
    issn = "1552-4825, 1552-4833",
    doi = "10.1002/ajmg.a.30712",
    keywords = "sex chromosome mosaicism; Ullrich-Turner syndrome; Y deletions; AZF; Y
instability",
    abstract = "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."
}