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Article

Three new cases of terminal deletion of the long arm of chromosome 7 and literature review to correlate genotype and phenotype manifestations.

American journal of medical genetics. Part A - 1 Apr 2016

Ayub Seemi, Gadji Macoura, Krabchi Kada, Côté Sylvie, Gekas Jean, Maranda Bruno, Drouin Régen

Abstract excerpt

Partial monosomy of the long arm of chromosome 7 has been characterized by wide phenotypic manifestations, but holoprosencephaly (HPE) and sacral agenesis have frequently been associated with this chromosomal deletion. A clear relationship between genotype and phenotype remains to be defined in the 7q deletion syndrome. Three patients (1, 2, and 3) were investigated with 7q terminal deletion and compared with...

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Share to Chromosome Deletion
Share to Chromosome Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 7

Share to Comparative Genomic Hybridization

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Share to In Situ Hybridization, Fluorescence

Share to Karyotyping

Share to Microsatellite Repeats

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Identifiers

PMID: 26822682
DOI: 10.1002/ajmg.a.37428

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