Familial Down syndrome: evidence supporting cytoplasmic inheritance.
The frequently observed familial aggregation of Down syndrome (DS) 47,+21 and other aneuploidies and the phenomenon of double aneuploidy involving DS cannot be accounted for by chance alone. To clarify possible aetiological factors, pedigrees from all 7 affected families with repeated marriages referred to two regional genetics centres were examined. In each case the recurrence of aneuploidy was on the mother's side (p<0.01). Such a pattern suggests cytoplasmic inheritance of a risk factor. The hypothesis that mitochondrial DNA mutations have a role in the aetiology of DS is supported by other observations as well as by theoretical considerations.
Arbuzova
S
S
Interregional Medico-Genetic Center, Central Hospital, Donetsk, Ukraine. s.arbuzova@lb.dn.ua
Cuckle
H
H
Mueller
R
R
Sehmi
I
I
D004272:DNA, Mitochondrial; D004314:Down Syndrome / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D018392:Genomic Imprinting; D006801:Humans; D008393:Marriage; D008423:Maternal Age; D009154:Mutation; D010375:Pedigree
D004272:DNA, Mitochondrial