Article
Array-CGH study of partial trisomy 9p without mental retardation.
American journal of medical genetics. Part A - 1 Jul 2011
Bouhjar Inesse Ben Abdallah, Hannachi Hanane, Zerelli Soumaya Mougou, Labalme Audrey, Gmidène Abir, Soyah Najla, Missaoui Sonia, Sanlaville Damien, Elghezal Hatem, Saad Ali
Abstract excerpt
Partial trisomy 9p is one of the most common detected autosomal structural anomalies, so the phenotype-genotype correlation of this rearrangement has been well described. Despite variation in size of the 9p duplications, trisomy 9p syndrome is characterized by typical dysmorphic features and a variable but constant psychomotor and mental retardation. Previously reported phenotype genotype correlation studies...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.