Article
Mild developmental delay and obesity in two patients with mosaic 1p36 deletion syndrome.
American journal of medical genetics. Part A - 1 Feb 2014
Shimada Shino, Maegaki Yoshihiro, Osawa Makiko, Yamamoto Toshiyuki
Abstract excerpt
We identified mosaic 1p36 deletions in two patients with developmental delay, distinctive features, and obesity, who can walk alone and communicate with others. Thus, their neurological defects are milder than those in typical patients with 1p36 deletion syndrome because most patients with 1p36 deletion cannot acquire expressive language. Chromosomal microarray testing revealed 3.0 and 4.5 Mb aberrations in the...
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