Riyadh chromosome breakage syndrome: mental retardation with depigmentation of the skin and hair

P T Ozand; M Waghray; J D Cook; K Sheth; G G Gascon

doi:10.1177/08830738920070011211

Riyadh chromosome breakage syndrome: mental retardation with depigmentation of the skin and hair

J Child Neurol. 1992 Apr:7 Suppl:S79-82. doi: 10.1177/08830738920070011211.

Authors

P T Ozand¹, M Waghray, J D Cook, K Sheth, G G Gascon

Affiliation

¹ Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

PMID: 1588019
DOI: 10.1177/08830738920070011211

Abstract

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Albinism / diagnosis
Albinism / genetics*
Brain Diseases, Metabolic / diagnosis
Brain Diseases, Metabolic / genetics*
Chromosome Aberrations / diagnosis
Chromosome Aberrations / genetics*
Chromosome Disorders
Chromosome Mapping
Female
Humans
Infant
Intellectual Disability / diagnosis
Intellectual Disability / genetics*
Neurologic Examination
Phenotype