Article
Coexistent mosaic monosomy 21 and fragile X syndrome in a mentally retarded male patient.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2007
Utine G E, Aktas D, Boduroğlu K, Alikasifoğlu M, Tunçbilek E
Abstract excerpt
Fragile X syndrome (FXS) is a well-recognized mental retardation syndrome with characteristic facial features and behavioural phenotype. Monosomy 21 is a rare cytogenetic aberration for which clinical features were incompletely defined since full monosomy 21 is incompatible with life. A 5-year-old male patient with FXS and low-grade mosaicism for full monosomy 21 (46,XY[96%]/45,XY,-21[4%]) is presented. He had...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.