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Co-Occurence of Reciprocal Translocation and COL2A1 Mutation in a Fetus with Severe Skeletal Dysplasia: Implications for Genetic Counseling.

Cytogenetic and genome research - 1 Jan 2015

Heinrich Tilman, Nanda Indrajit, Rehn Monika, Zollner Ursula, Ernestus Karen, Wirth Clemens, Schlüter Gregor, Schmid Michael, Kunstmann Erdmute

Abstract excerpt

Achondrogenesis type II is an autosomal-dominant disease leading to severe micromelic dwarfism. Here, we report on the postmortem identification of a de novo heterozygous mutation in the COL2A1 gene (c.1529G>A, p.Gly510Asp) in a fetus who presented with generalized hydrops fetalis and severe micromelia during prenatal sonographic examinations. Initially, a reciprocal translocation t(4;17)(q31;p13) was detected in...

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PMID: 25823796
DOI: 10.1159/000381169

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