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- Title
Co-Occurrence of Reciprocal Translocation and COL2A1 Mutation in a Fetus with Severe Skeletal Dysplasia: Implications for Genetic Counseling.
- Authors
Heinrich, Tilman; Nanda, Indrajit; Rehn, Monika; Zollner, Ursula; Ernestus, Karen; Wirth, Clemens; Schlüter, Gregor; Schmid, Michael; Kunstmann, Erdmute
- Abstract
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 this fetus by chorionic villus sampling. Subsequent chromosomal analysis of maternal and paternal blood showed that the patient's mother was carrier of the same reciprocal translocation. SNP array analysis of the fetus did not provide evidence for chromosomal imbalances or CNVs that could be associated with the fetal phenotype. The coexistence of a cytogenetic (reciprocal translocation) and a molecular genetic (COL2A1 mutation) abnormality in the fetus carries important implications for genetic counseling. © 2015 S. Karger AG, Basel
- Subjects
SKELETAL dysplasia; GENETIC counseling; BONE diseases; OSTEOCHONDRODYSPLASIAS; PSYCHOTHERAPY; THERAPEUTICS
- Publication
Cytogenetic & Genome Research, 2015, Vol 145, Issue 1, p25
- ISSN
1424-8581
- Publication type
Article
- DOI
10.1159/000381169