Article
Partial trisomy 1q41-qter and partial trisomy 9pter-9q21.32 in a newborn infant: an array CGH analysis and review.
American journal of medical genetics. Part A - 1 Feb 2014
Akalin Ibrahim, Bozdag Senol, Spielmann Malte, Basaran Sarenur Yilmaz, Nanda Indrajit, Klopocki Eva
Abstract excerpt
We report on a girl who presented with distinctive abducted hip and hyperextended knee. Cytogenetic analysis detected an extra derivative chromosome resulting from a balanced translocation in the mother and 3:1 segregation. Using array comparative genomic hybridization (CGH) in combination with conventional high resolution GTG banding, we designate the karyotype as 47, XX, +der(9)t(1;9)(q41;q21.32)mat, indicating...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
