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Rates of 47, + 13 amd 46 translocation D/13 Patau syndrome in live births and comparison with rates in fetal deaths and at amniocentesis

Hook, E.B.

American Journal of Human Genetics 32(6): 849-858

1980

ISSN/ISBN: 0002-9297
PMID: 7446526
Accession: 044142579

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Summary
Trisomy 13 (Patau syndrome) is rare in newborns. Data on rates in 167,774 live births from 17 separate studies are reviewed, and the following pooled rates found for: (1) 47,trisomy 13, 8.3 X 10(-5) (1/12,000); and (2) 46, (D/13 Robertsonian translocations), 4.2 X 10(-5) (1/24,000)--mutants, 1.2 X 10(-5) (1/80,000) to 1.8 X 10(-5) (1/56,000); and familial cases, 2.4 X 10(-5) (1/42,000) to 3.0 X 10(-5) (1/33,000). The rate of trisomy 13 (47, + 13) in liveborns (ignoring possible biases in studies and heterogeneity in rates) is, with 95% confidence, between 4.6 X 10(-5) (1/21,700) and 14.0 X 10(-5) (1/7,000), with the most likely figure close to 8 X 10(-5) (1/12,000). Numbers are insufficient to construct a comparably narrow confidence interval for translocation cases. The rates of 47, + 13 may be estimated in (1) spontaneous abortuses, about 0.8%--1.0% (100-fold greater than in liveborns); (2) early neonatal deaths, about 0.4% (50-fold greater than in liveborns); and (3) amniocentesis, higher than in liveborns, at least for mothers 40 years and over.

References

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Hook, E. 1978: Rates Of Down'S Syndrome In Live Births And At Medtrimester Amniocentesis The Lancet 311(8072): 1053-1054
Hook, E.B.; Cross, P.K.; Schreinemachers, D.M. 1982: Contemporary estimates of maternal age specific rates of downs syndrome and other trisomies in live births in absence of selective abortion using regression smoothed rates from pre natal diagnostic studies adjusted for spontaneous fetal death after amnio centesis American Journal of Human Genetics 34(6): 128A
Sierra Romero, Mía.Del.Carmen.; Navarrete Hernández, E.; Canún Serrano, S.; Reyes Pablo, A.E.; Valdés Hernández, J. 2014: Prevalence of Down syndrome using certificates of live births and fetal deaths in México 2008-2011 Boletin medico del Hospital Infantil de Mexico 71(5): 292-297
Yaegashi, N.; Uehara, S.; Maeda, T.; Fujimori, K.; Okamura, K.; Yajima, A. 2001: Observed versus expected rates of unbalanced fetal karyotype at second trimester amniocentesis when one parent carries a balanced translocation Gynecologic and Obstetric Investigation 51(2): 85-91
Schreinemachers, D.M.; Cross, P.K.; Hook, E.B. 1982: Rates of trisomies 21, 18, 13 and other chromosome abnormalities in about 20 000 prenatal studies compared with estimated rates in live births Human Genetics 61(4): 318-324
1940: Deaths, death rates, births, birth rates, infant mortality, infant mortality rates, maternal mortality, maternal mortality rates, and stillbirths in Michigan, by counties, rural and urban, during the year 1939 Michigan Pub. Health 28: 116-118
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Hook, E.B.; Cross, P.K.; Jackson, L.; Pergament, E.; Brambati, B. 1988: Maternal age-specific rates of 47,+21 and other cytogenetic abnormalities diagnosed in the first trimester of pregnancy in chorionic villus biopsy specimens: comparison with rates expected from observations at amniocentesis American Journal of Human Genetics 42(6): 797-807
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Hook, E.B.; Cross, P.K.; Jackson, L.G.; Pergament, E.; Brumbati, B. 1987: Rates of 47 positive 21 and other cytogenetic abnormalities diagnosed in 1st trimester chorionic villus samples cvs comparison with rates from 2nd trimester amniocentesis American Journal of Human Genetics 41(3 Suppl): A276
Hook, E.B. 1981: Unbalanced Robertsonian translocations associated with Down's syndrome or Patau's syndrome: chromosome subtype, proportion inherited, mutation rates, and sex ratio Human Genetics 59(3): 235-239
Hook, E.B.; Cross, P.K.; Schreinemachers, D.M. 1983: Chromosomal abnormality rates at amniocentesis and in live-born infants JAMA 249(15): 2034-2038