title: Albinism and developmental delay: the need to test for 15q11-q13 deletion.
abstract: 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.
authors: Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland 21287, USA. rsaadeh1@hotmail.com
authors: Reem
authors: R
authors: Saadeh
authors: Emily C
authors: EC
authors: Lisi
authors: Denise A S
authors: DA
authors: Batista
authors: Iain
authors: I
authors: McIntosh
authors: Julie E
authors: JE
authors: Hoover-Fong
mesh_terms: D016115:Albinism, Oculocutaneous / Q000150:complications / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D017204:Angelman Syndrome / Q000150:complications / Q000235:genetics; D002884:Chromosomes, Human, Pair 15; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D007621:Karyotyping; D011218:Prader-Willi Syndrome / Q000235:genetics