Cryptic 7q36.2q36.3 deletion causes multiple congenital eye anomalies and craniofacial dysmorphism
Ana Beleza-Meireles1, Eunice Matoso, Lina Ramos
1Centro Hospitalar e Universitário de Coimbra, Departamento Pediátrico, Serviço de Genética Medica, Coimbra, Portugal. ana.beleza@chc.min-saude.pt
American Journal of Medical Genetics. Part A
|February 13, 2013
Abstract:
A patient with a de novo cryptic 7q36.2q36.3 deletion presented with multiple congenital eye abnormalities, short stature and craniofacial dysmorphism, in the absence of intellectual disability. This report further delineates the 7q36 microdeletion syndrome.
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