Interstitial 4q deletion associated with a mosaic complementary supernumerary marker chromosome in prenatal diagnosis

Abstract excerpt

What's already known about this topic? Chromosomal deletion associated with a complementary ring is a very rare cytogenetic finding. Genetic counselling in prenatally ascertained cases without ultrasound defects is extremely complex because this rearrangement has been associated both to normal and abnormal phenotype. What does this study add? This case elucidates the importance of the integrated approach by...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Chromosomal and Genetic Variations
• Share to Genomic variations and chromosomal abnormalities
• Share to Prenatal Screening and Diagnostics