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Familial Down syndrome: evidence supporting cytoplasmic inheritance
Author(s) -
Arbuzova S,
Cuckle H,
Mueller R,
Sehmi I
Publication year - 2001
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.2001.600609.x
Subject(s) - pedigree chart , aneuploidy , genetics , etiology , inheritance (genetic algorithm) , mitochondrial dna , biology , down syndrome , non mendelian inheritance , extranuclear inheritance , chromosome , medicine , gene
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.