Article
A severely mental and motor retarded boy with monosomy 9pter-->p22 trisomy 10q26-->qter due to paternal reciprocal translocation 46,XY,t(9;10)(p23;q26).
Genetic counseling (Geneva, Switzerland) - 1 Jan 2011
Akbas E, Polat S, Karakas-Celik S, Altintas Z Mert, Yildirim M, Yilgor E
Abstract excerpt
We report on a twenty-two months old male patient with hypotonia, mental and motor retardation and trigonocephaly. Standard GTG banding chromosomal analysis (from metaphyses of a periferal blood lymphocyte culture) showed 46,XY, der(9) monosomy 9pter-->p22, trisomy 10q26--> qter karyotype. This unbalanced translocation resulted from the father's t(9,10) (p22;p26) karyotype. Deletions of the terminal part of 9p...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
