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.
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.
authors.affiliation: Department of Cytogenetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus. patsalis@cing.ac.cy
authors.forename: Philippos C
authors.initials: PC
authors.lastname: Patsalis
authors.forename: Nicos
authors.initials: N
authors.lastname: Skordis
authors.forename: Carolina
authors.initials: C
authors.lastname: Sismani
authors.forename: Ludmila
authors.initials: L
authors.lastname: Kousoulidou
authors.forename: George
authors.initials: G
authors.lastname: Koumbaris
authors.forename: Christina
authors.initials: C
authors.lastname: Eftychi
authors.forename: George
authors.initials: G
authors.lastname: Stavrides
authors.forename: Antonis
authors.initials: A
authors.lastname: Ioulianos
authors.forename: Sophia
authors.initials: S
authors.lastname: Kitsiou-Tzeli
authors.forename: Angeliki
authors.initials: A
authors.lastname: Galla-Voumvouraki
authors.forename: Zoe
authors.initials: Z
authors.lastname: Kosmaidou
authors.forename: Charalambos G
authors.initials: CG
authors.lastname: Hadjiathanasiou
authors.forename: Ken
authors.initials: K
authors.lastname: McElreavey
mesh_terms: D002460:Cell Line; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D010641:Phenotype; D016324:Sequence Tagged Sites; D012729:Sex Chromosome Aberrations; D025064:Sex Chromosome Disorders / Q000235:genetics* / Q000473:pathology