De novo 15.5-Mb Interstitial Deletion in 5p in a Male Ascertained by Oligospermia

Molecular Syndromology

A. Vetro¹  O. Zuffardi¹  I. Papoulidis¹  L. Thomaidis¹  E. Manolakos¹  S. Orru¹  Z. Iliodromiti¹  K. Kefalas¹ 

[1] aLaboratory of Genetics of Eurogenetica S.A., Aglaia Kyriakou Children's Hospital, Athens, Greece

关键词: Array-based comparative genomic hybridization;    Asynapsis;    Deletion;    Infertility;    Oligospermia;    5p13.3p14.3
;   

DOI  :  10.1159/000351656

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

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.

【 授权许可】

Unknown