Article
Hearing loss, coloboma and left ventricular enlargement in a boy with an interstitial 10q26 deletion.
American journal of medical genetics. Part C, Seminars in medical genetics - 1 Jun 2016
Ramos Maria, Wilkens Alisha, Krantz Ian D, Wu Yaning
Abstract excerpt
Distal deletion of the long arm of chromosome 10 with breakpoints mapped at 10q26 is a well-recognized contiguous genomic disorder. A wide spectrum of clinical findings is seen in affected individuals and the common clinical features include craniofacial dysmorphia, developmental delay, intellectual disability, hypotonia, cardiovascular defects, and urogenital malformations. We report herein on a male patient...
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