Article
Partial trisomy 9q due to maternal 9q 17q translocation.
Indian pediatrics - 1 Jul 2008
Nampoothiri Sheela, Lakshman Lakshmy R, Anilkumar Alka, Thampi M V
Abstract excerpt
Partial Trisomy 9q is a unique chromosomal anomaly with a distinctive phenotype. Only 5 cases have been reported in the literature till now. A large family with four affected children was studied in detail and was compared with the five previously reported cases. Determination of this novel balanced translocation in their family had helped us to offer prenatal diagnosis. This presentation is unique as even though...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.