Research Topics
| Natalia V KovalevaSummaryCountry: Russia Publications
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Detail Information
Publications
Parental mosaicism for trisomy 21: problems with its detection and an approach to determining its population rateNatalia V Kovaleva
St. Petersburg Medical Academy of Postgraduate Studies under the Federal Agency of Health Care and Social Development, St. Petersburg, Russian Federation
Genet Test 11:341-4. 2007
Under-ascertainment of mosaic carriers of balanced homologous acrocentric translocations and isochromosomesNatalia V Kovaleva
Baylor College of Medicine, Houston, Texas, USA
Am J Med Genet A 121:180-7. 2003..However, given that mosaicism may be restricted to the gonads, prenatal testing is likely to be desired by the family whether or not mosaicism is found...
Epidemiology of double aneuploidies involving chromosome 21 and the sex chromosomesNatalia V Kovaleva
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
Am J Med Genet A 134:24-32. 2005..9 in 48,XXY,+21 cases and a mean age of 27.9 in 48,XYY,+21 cases (P < 0.01). Maternal age-related factors, rather than genetic predisposition, may play a more important role in the etiology of the most common DA, 48,XXY,+21...
Sex-specific chromosome instability in early human developmentNatalia V Kovaleva
St Petersburg Centre for Medical Genetics, St Petersburg, Russian Federation
Am J Med Genet A 136:401-13. 2005..The data obtained suggest that females may have gonadal mosaicism for aneuploidies and structural rearrangements more often than males. This may lead to the maternal origin bias in offspring with trisomies or structural rearrangements...
Nonmosaic balanced homologous translocations of major clinical significance: some may be mosaicNatalia V Kovaleva
St Petersburg Center for Medical Genetics, St Petersburg, Russian Federation
Am J Med Genet A 143:2843-50. 2007..However, additional studies of healthy carriers of homologous REA of chromosome 14 or 15 should not be done. (c) 2007 Wiley-Liss, Inc...
Germ-line transmission of trisomy 21: Data from 80 families suggest an implication of grandmaternal age and a high frequency of female-specific trisomy rescueNatalia V Kovaleva
Scientific Research Centre at Saint Petersburg State Pediatric Medical Academy under the Federal Agency of Health Care and Social Development, St Petersburg, Russian Federation
Mol Cytogenet 3:7. 2010..Studies in families of gonadal mosaicism (GM) carriers might help resolving some of these problems...
