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

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.

SUBMITTER: Papoulidis I

PROVIDER: S-EPMC3711483 | biostudies-literature | 2013 Jun

REPOSITORIES: biostudies-literature

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

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

Molecular syndromology 20130612 5

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 t ...[more]

PMID: 23885232

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