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: Reem Saadeh, Emily C Lisi, Denise A S Batista, Iain McIntosh, Julie E Hoover-Fong
• Journal: Pediatric neurology (Pediatr Neurol) Vol. 37 Issue 4 Pg. 299-302 (Oct 2007) ISSN: 0887-8994 [Print] United States
• PMID: 17903679 (Publication Type: Case Reports, Journal Article)

Topics

• Albinism, Oculocutaneous (complications, genetics, pathology, physiopathology)
• Angelman Syndrome (complications, genetics)
• Chromosomes, Human, Pair 15
• Developmental Disabilities (genetics)
• Female
• Gene Deletion
• Humans
• Infant
• Karyotyping
• Prader-Willi Syndrome (genetics)