A cytogenetic abnormality in tuberous sclerosis. Report of an affected infant with 47,XX, + der22,t(11;22)(q23.3;q11.2)mat.
Clark
R D
RD
Department of Pediatrics, Loma Linda University Medical Center, California 92350.
D000015:Abnormalities, Multiple / Q000235:genetics; D001932:Brain Neoplasms / Q000151:congenital; D002869:Chromosome Aberrations / Q000473:pathology*; D025063:Chromosome Disorders; D002880:Chromosomes, Human, Pair 11; D002892:Chromosomes, Human, Pair 22; D006338:Heart Neoplasms / Q000151:congenital; D006801:Humans; D010375:Pedigree; D012207:Rhabdomyoma / Q000151:congenital; D014178:Translocation, Genetic; D014402:Tuberous Sclerosis / Q000235:genetics*