De novo 15.5-Mb interstitial deletion in 5p in a male ascertained by Oligospermia

I. Papoulidis, A. Vetro, K. Kefalas, S. Orru, L. Thomaidis, Z. Iliodromiti, O. Zuffardi, E. Manolakos

Research output: Contribution to journalArticlepeer-review

Abstract

We describe a case of a 34-year-old male presenting with oligospermia and an otherwise normal phenotype. Investigation with array-based comparative genomic hybridization (aCGH) revealed an interstitial deletion of about 15.5 Mb in chromosome 5p13.3p14.3. We compared the phenotype of our patient with recently reported patients studied by aCGH, who show an overlapping deletion. We also analyzed the gene content of the deleted region in order to propose a possible involvement of specific genes in the clinical phenotype.

Original languageEnglish
Pages (from-to)250-254
Number of pages5
JournalMolecular Syndromology
Volume4
Issue number5
DOIs
Publication statusPublished - Jun 2013

Keywords

  • 5p13.3p14.3
  • Array-based comparative genomic hybridization
  • Asynapsis
  • Deletion
  • Infertility
  • Oligospermia

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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