Inversion duplication deletions involving the long arm of chromosome 13: phenotypic description of additional three fetuses and genotype-phenotype correlation.

doi:10.1002/ajmg.a.36658

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Article

Inversion duplication deletions involving the long arm of chromosome 13: phenotypic description of additional three fetuses and genotype-phenotype correlation.

American journal of medical genetics. Part A - 1 Oct 2014

Quelin Chloe, Spaggiari Emmanuel, Khung-Savatovsky Suonavy, Dupont Celine, Pasquier Laurent, Loeuillet Laurence, Jaillard Sylvie, Lucas Josette, Marcorelles Pascale, Journel Hubert, Pluquailec-Bilavarn Khantaby, Bazin Anne, Verloes Alain, Delezoide Anne-Lise, Aboura Azzedine, Guimiot Fabien

Abstract excerpt

Inversion duplication and terminal deletion of the long arm of chromosome 13 (inv dup del 13q) is a rare chromosomal rearrangement: only five patients have been reported, mostly involving a ring chromosome 13. We report on additional three fetuses with pure inv dup del 13q: Patient 1 had macrosomia, enlarged kidneys, hypersegmented lungs, unilateral moderate ventriculomegaly, and a mild form of hand and feet...

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PMID: 24975584
DOI: 10.1002/ajmg.a.36658

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