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

作者：Saadeh Reem^*; Lisi Emily C; Batista Denise A S; McIntosh Iain; Hoover Fong Julie E

来源：Pediatric Neurology, 2007, 37(4): 299-302.

DOI：10.1016/j.pediatrneurol.2007.06.024

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 PraderWilli syndrome in a patient with albinism should prompt further investigation.

• 出版日期2007-10
• 单位河北医科大学