Molecular Cytogenetics

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Germ-line transmission of trisomy 21: Data from 80 families suggest an implication of grandmaternal age and a high frequency of female-specific trisomy rescue

Natalia V Kovaleva

Author Affiliations

Scientific Research Centre at Saint-Petersburg State Pediatric Medical Academy under the Federal Agency of Health Care and Social Development, St Petersburg, Russian Federation

Molecular Cytogenetics 2010, 3:7 doi:10.1186/1755-8166-3-7

Published: 18 March 2010

Additional files

Additional file 1:

Table S1. Details of families with maternal trisomy 21 gonadal mosaicism. Tabular data presenting indication for the testing of the carrier for the presence of abnormal line, proportion of trisomic cell line; method of germ mosaicism ascertainment, maternal age at birth/conception of DS child/fetus, grandparental ages at birth of the carrier, outcome of carrier's pregnancies, and sex of both affected and unaffected offspring of female carriers of gonadal mosaicism.

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Additional file 2:

Table S2. Detailes of families with paternal trisomy 21 gonadal mosaicism. Tabular data presenting indication for the testing of the carrier for the presence of abnormal line, proportion of trisomic cell line; method of germ mosaicism ascertainment, maternal age at birth/conception of DS child/fetus, grandparental ages at birth of the carrier, outcome of carrier's pregnancies, and sex of both affected and unaffected offspring of male carriers of gonadal mosaicism.

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