Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y-chromosome instability

Philippos C. Patsalis, Nicos Skordis, Carolina Sismani, Ludmila Kousoulidou, George Koumbaris, Christina Eftychi, George Stavrides, Antonis Ioulianos, Sophia Kitsiou-Tzeli, Angeliki Galla-Voumvouraki, Zoe Kosmaidou, Charalambos G. Hadjiathanasiou, Ken McElreavey

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42 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)145-149
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume135 A
Issue number2
DOIs
Publication statusPublished - 1 Jun 2005

Keywords

  • AZF
  • Sex chromosome mosaicism
  • Ullrich-Turner Syndrome
  • Y deletions
  • Y instability

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    Patsalis, P. C., Skordis, N., Sismani, C., Kousoulidou, L., Koumbaris, G., Eftychi, C., Stavrides, G., Ioulianos, A., Kitsiou-Tzeli, S., Galla-Voumvouraki, A., Kosmaidou, Z., Hadjiathanasiou, C. G., & McElreavey, K. (2005). Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y-chromosome instability. American Journal of Medical Genetics, 135 A(2), 145-149. https://doi.org/10.1002/ajmg.a.30712