PMID- 15880425
OWN - NLM
STAT- MEDLINE
DCOM- 20050627
LR  - 20220409
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 135
IP  - 2
DP  - 2005 Jun 1
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.
PG  - 145-9
AB  - 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.
CI  - Copyright (c) 2005 Wiley-Liss, Inc.
FAU - Patsalis, Philippos C
AU  - Patsalis PC
AD  - Department of Cytogenetics, The Cyprus Institute of Neurology and Genetics, 
      Nicosia, Cyprus. patsalis@cing.ac.cy
FAU - Skordis, Nicos
AU  - Skordis N
FAU - Sismani, Carolina
AU  - Sismani C
FAU - Kousoulidou, Ludmila
AU  - Kousoulidou L
FAU - Koumbaris, George
AU  - Koumbaris G
FAU - Eftychi, Christina
AU  - Eftychi C
FAU - Stavrides, George
AU  - Stavrides G
FAU - Ioulianos, Antonis
AU  - Ioulianos A
FAU - Kitsiou-Tzeli, Sophia
AU  - Kitsiou-Tzeli S
FAU - Galla-Voumvouraki, Angeliki
AU  - Galla-Voumvouraki A
FAU - Kosmaidou, Zoe
AU  - Kosmaidou Z
FAU - Hadjiathanasiou, Charalambos G
AU  - Hadjiathanasiou CG
FAU - McElreavey, Ken
AU  - McElreavey K
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
CIN - Am J Med Genet A. 2006 May 15;140(10):1128-30. PMID: 16619206
MH  - Cell Line
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Y/*genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - *Mosaicism
MH  - Phenotype
MH  - Sequence Tagged Sites
MH  - Sex Chromosome Aberrations
MH  - Sex Chromosome Disorders/*genetics/pathology
EDAT- 2005/05/10 09:00
MHDA- 2005/06/28 09:00
CRDT- 2005/05/10 09:00
PHST- 2005/05/10 09:00 [pubmed]
PHST- 2005/06/28 09:00 [medline]
PHST- 2005/05/10 09:00 [entrez]
AID - 10.1002/ajmg.a.30712 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2005 Jun 1;135(2):145-9. doi: 10.1002/ajmg.a.30712.