Albinism Research Today is a free monthly online journal that collates and summarizes the latest research about Albinism, including details on pigmentation, genetic trait, heritability.

Albinism and developmental delay: the need to test for 15q11-q13 deletion.

Saadeh R, Lisi EC, Batista DA, McIntosh I, Hoover-Fong JE

Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland 21287, USA. rsaadeh1@hotmail.com

We report on a 17-month-old African girl with cutaneous and ophthalmologic features of oculocutaneous albinism type 2 as well as microcephaly, absent speech, and tremulous movements. Mutations of the P gene within the Angelman/Prader-Willi syndrome critical region at 15q11-q13 cause oculocutaneous albinism type 2. Comorbid oculocutaneous albinism and Angelman syndrome were suspected and confirmed by cytogenetics. Phenotypic features of Angelman syndrome or Prader-Willi syndrome in a patient with albinism should prompt further investigation.

Published 1 October 2007 in Pediatr Neurol, 37(4): 299-302.
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