Riyadh chromosome breakage syndrome: mental retardation with depigmentation of the skin and hair.
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.
Ozand
P T
PT
Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Waghray
M
M
Cook
J D
JD
Sheth
K
K
Gascon
G G
GG
D000417:Albinism / Q000175:diagnosis / Q000235:genetics*; D001928:Brain Diseases, Metabolic / Q000175:diagnosis / Q000235:genetics*; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D009460:Neurologic Examination; D010641:Phenotype