- Familial Down syndrome: evidence supporting cytoplasmic inheritanceS Arbuzova
Interregional Medico Genetic Center, Central Hospital, Donetsk, Ukraine
Clin Genet 60:456-62. 2001..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...
- Mitochondrial dysfunction and Down's syndromeSvetlana Arbuzova
Medico Genetic Center, Donetsk, Ukraine
Bioessays 24:681-4. 2002..1 These findings are consistent with considerable data implicating the role of the mitochondrial genome in DS pathogenesis and aetiology...
- Frequency of Down's syndrome and neural-tube defects in the same familyGad Barkai
Danek Gertner Institute of Human Genetics, Sheba Medical Centre, Tel Hashomer, and Sackler School of Medicine, Tel Aviv University, 52621, Tel Aviv, Israel
Lancet 361:1331-5. 2003..We therefore investigated whether Down's syndrome and NTD arise more often in the same family than would be expected from the incidence of each disorder considered separately...
- QF-PCR examination of parental and meiotic origin of trisomy 21 in Central and Eastern EuropeMarina Machatkova
University Hospital Motol, Institute of Biology and Medical Genetics, Laboratory of Assisted Reproduction and Reproductive Genetics, V Uvalu 84, Prague 5, 150 06, Czech Republic
J Histochem Cytochem 53:371-3. 2005..4% and 14.3% and paternal in 3.1% and 5.7% in Ukraine and Russia, respectively. No significant differences were found in maternal/paternal origin among Ukraine, Russia, Germany, and published data from other European regions...