Article
A new familial case of microdeletion syndrome 10p15.3.
European journal of medical genetics - 1 Apr 2016
Eggert Marlene, Müller Stefan, Heinrich Uwe, Mehraein Yasmin
Abstract excerpt
In 2012 a small terminal deletion in the short arm of chromosome 10 in the region 10p15.3 was reported as a novel microdeletion syndrome. By now 21 patients, including a single familial case, have been reported. Characteristic findings comprise variable cognitive impairment or developmental delay, disorder of speech development, as well as various dysmorphic signs. We here report on a new patient, an eight year...
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