Partial duplication of 18q including a distal critical region for Edwards Syndrome in a patient with normal phenotype and oligoasthenospermia: case report.

doi:10.1159/000322719

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Article

Partial duplication of 18q including a distal critical region for Edwards Syndrome in a patient with normal phenotype and oligoasthenospermia: case report.

Cytogenetic and genome research - 1 Jan 2011

Quiroga R, Monfort S, Oltra S, Ferrer-Bolufer I, Roselló M, Mayo S, Martinez F, Orellana C

Abstract excerpt

Several authors have attempted to construct a phenotype map for duplications of different portions of chromosome 18 to identify a possible critical region (CR) for Edwards Syndrome. Partial duplications of 18q have been reported in the literature involving the distal CR in patients with some clinical features of Edwards Syndrome. Here, we describe a phenotypically normal male with a large duplication on...

Topics

Adult
Asthenozoospermia
Chromosome Duplication
Chromosomes, Human, Pair 18
Humans
Male
Oligospermia
Phenotype

Source

Open in PubMed

Identifiers

PMID: 21228546
DOI: 10.1159/000322719

Provenance

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