Albinism and Developmental Delay: The Need to Test for 15q11-q13 Deletion

Reem Saadeh, Emily C. Lisi, Denise A.S. Batista, Iain McIntosh, Julie E. Hoover-Fong

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)299-302
Number of pages4
JournalPediatric Neurology
Volume37
Issue number4
DOIs
StatePublished - Oct 2007

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Developmental Neuroscience
  • Clinical Neurology

Fingerprint Dive into the research topics of 'Albinism and Developmental Delay: The Need to Test for 15q11-q13 Deletion'. Together they form a unique fingerprint.

Cite this