Article Title: 47,XYY Syndrome: Clinical Phenotype and Timing of Ascertainment

Authors: Martha Zeger Bardsley, Karen Kowal, Carly Levy, Ania Gosek, Natalie Ayari, Nicole Tartaglia, Najiba Lahlou, Breanna Winder, Shannon Grimes, and Judith L. Ross

Date of Publication: May 2013

“The XYY phenotype commonly includes tall stature, macrocephaly, macroorchidism, hypotonia, hypertelorism, and tremor. Physical phenotypic features were similar in boys diagnosed prenatally vs postnatally. Prenatal diagnosis was associated with higher cognitive function and less likelihood of an ASD diagnosis.”

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