✍ Scribed by Tolarova, Marie M.; Harris, John A.; Ordway, Doris E.; Vargervik, Karin
No coin nor oath required. For personal study only.
Apert syndrome was studied to determine birth prevalence, mutation rate, sex ratio, parents' age, and ethnicity among 2,493,331 live births registered in the California Birth Defects Monitoring Program (CBDMP) from 1983 through 1993; 31 affected infants were identified. The sample was completed with an additional 22 cases from the Center for Craniofacial Anomalies (CCA), University of California, San Francisco, for a total of 53 affected children. Birth prevalence, calculated from the CBDMP subsample, was 12.4 cases per million live births (confidence interval [CI] 8.6,17.9). The calculated mutation rate was 6.2 × 10 -6 per gene per generation. Asians had the highest prevalence (22.3 per million live births; CI 7.1,61.3) and Hispanics the lowest (7.6 per million, CI 3.3-16.4). In the large population-based CBDMP subsample, there was an almost equal number of affected males and females, (sex ratio 0.94) but in the clinical CCA subsample, there were more affected females (sex ratio 0.79). For all cases, the mean age of mothers was 28.9±6.0 years, and of fathers was 34.1±6.2 years. Almost half of fathers were older than 35 years when the child was born; for more than 20% of cases, both parents were older than 35 years. These findings may support the view that point mutations appear to be more commonly associated with paternal than with maternal alleles. Representing the largest systematically ascertained population-based study of Apert syndrome to date, they provide a reliable basis for genetic counseling and decisionmaking, and for focused research to define the cause of this syndrome. Am. J. Med. Genet. 72:394-398, 1997.
📜 SIMILAR VOLUMES
Jacaranda Leven est une jeune Californienne solaire et désinvolte, qui n’a de goût que pour les plaisirs de l’existence : sécher l’école pour faire du surf, siroter des White Lady en compagnie de milliardaires blasés dans des palaces, et se laisser ballotter par le ressac des amours passagères. Jusq
Jacaranda Leven est une jeune Californienne solaire et désinvolte, qui n'a de goût que pour les plaisirs de l'existence : sécher l'école pour faire du surf, siroter des White Lady en compagnie de milliardaires blasés dans des palaces, et se laisser ballotter par le ressac des amours passagères. Jusq
Con una prosa che riesce a essere insieme onirica e carnale Eve Babitz descrive la vita e gli amori di una donna che (forse) le assomiglia al ritmo incalzante di tango, un ballo che è “un abbraccio popolare tra seminatori di erbacce senza rimpianti”. Jacaranda Leven è nata e cresciuta a Los Angeles
Discovering a tomb of Cardassian soldiers on Deep Space Nine, Commander Sisko searches for a diplomatic way to return them to Cardassia and is stunned when the bodies come back to life and attack the crew.
To determine the proportion and birth prevalence of "typical" orofacial clefts (cleft lip (CL), cleft palate (CP), cleft lip and palate (CLP)) and "atypical" clefts (median, transversal, or oblique facial clefts) and the conditions in which they occur, we analyzed a population-based sample of 4,433