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Journal of Child Neurology
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Riyadh Chromosome Breakage Syndrome: Mental Retardation With Depigmentation of the Skin and Hair

Pinar T. Ozand, MD, PhD

Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia

Manjula Waghray, PhD

Department of Biological and Medical Research, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia

Jay D. Cook, MD

Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia

Kirtikant Sheth

Department of Pathology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia

Generoso G. Gascon, MD

Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia

A 20-month-old infant with "silvery-blond" hair color, widespread confettilike depigmentation of the skin, and mental retardation was found to have, in lymphocytes and fibroblast cultures, increased spontaneous chromosome breaks and breaks induced by both mitomycin and {gamma}-irradiation. The sister chromatid exchange frequency was normal. This child probably represents a new chromosome breakage syndrome. (J Child Neurol 1992;7(Suppl):S79-S82.)

Journal of Child Neurology, Vol. 7, No. 1 Suppl, S79-S82 (1992)
DOI: 10.1177/08830738920070011211
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Home page
 J Child NeurolHome page
P. T. Ozand, E. B. Devol, and G. G. Gascon
Neurometabolic Diseases at a National Referral Center: Five Years Experience at the King Faisal Specialist Hospital and Research Centre
J Child Neurol, April 1, 1992; 7(1_suppl): S4 - S11.
[Abstract] [PDF]