Albinism and Developmental Delay: The Need to Test for 15q11-q13 Deletion - 09/08/11
Doi : 10.1016/j.pediatrneurol.2007.06.024
Reem Saadeh, MD 
⁎ 
, Emily C. Lisi, MS , Denise A.S. Batista, PhD †, ‡, Iain McIntosh, PhD , §, Julie E. Hoover-Fong, MD
Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland
⁎ , Emily C. Lisi, MS , Denise A.S. Batista, PhD †, ‡, Iain McIntosh, PhD , §, Julie E. Hoover-Fong, MD Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland † Department of Pathology, Johns Hopkins University, Baltimore, Maryland
‡ Cytogenetics Laboratory, Kennedy Krieger Institute, Baltimore, Maryland
§ Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland.
Communications should be addressed to: Dr. Saadeh; Institute of Genetic Medicine; Johns Hopkins University; 600 N. Wolfe St., Blalock 1008; Baltimore, MD 21287.Résumé |
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.
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© 2007
Elsevier Inc. Tous droits réservés.
Vol 37 - N° 4
P. 299-302 - octobre 2007 Retour au numéro
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