Article
Phenotypic features of pure 9p deletion in a male infant include cryptorchidism, congenital heart defects and postaxial polydactyly.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2012
Chen C-P, Lin S-P, Chen M-R, Su J-W, Chern S-R, Chen Y-J, Lee M-S, Wang W
Abstract excerpt
We report a 2 1/2-year-old male infant with a karyotype of 46,XY,del(9)(p22) and the phenotypic features of craniofacial dysmorphisms, hypotonia, psychomotor developmental delay, mental retardation, ventricular septal defect, atrial septal defect, cryptorchidism and postaxial polydactyly of the fingers. A rudimentary poorly developed extra digit in the ulnar side of the fifth finger was observed in each hand. The...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.