Trisomy 8 mosaicism: a further five cases illustrating marked clinical and cytogenetic variability.
Trisomy 8 mosaicism is extremely variable in its phenotypic and cytogenic expression. We present five patients clearly demonstrating the lack of correlation between clinical and laboratory findings, and show that the aneuploid cell lines decreases with time in relation to the normal. This poses a counseling dilemma.
Department of Human Genetics, School of Pathology, South African, Institute for Medical Research, Johannesburg, South Africa.
M A
MA
Jordan
I
I
Marques
J
J
Rosendorff
T J
TJ
de Ravel
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000473:pathology / Q000523:psychology; D000293:Adolescent; D000328:Adult; D002871:Chromosome Banding; D002898:Chromosomes, Human, Pair 8; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008607:Intellectual Disability; D007360:Intelligence; D008297:Male; D009030:Mosaicism; D010641:Phenotype; D014314:Trisomy