Document Detail

Birth prevalence, mutation rate, sex ratio, parents' age, and ethnicity in Apert syndrome.
MedLine Citation:
PMID:  9375719     Owner:  NLM     Status:  MEDLINE    
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 x 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 decision-making, and for focused research to define the cause of this syndrome.
M M Tolarova; J A Harris; D E Ordway; K Vargervik
Related Documents :
19544249 - Antenatal corticosteroids prior to 24 weeks' gestation and neonatal outcome of extremel...
12738149 - Birth weight discordance and adverse fetal and neonatal outcomes among triplets in the ...
21639609 - Examining infants' preferences for tempo in lullabies and playsongs.
12535489 - Prophylactic intravenous antifungal agents to prevent mortality and morbidity in very l...
21966069 - The role of infant sleep in intergenerational transmission of trauma.
24784879 - Helmet therapy in infants with positional skull deformation: randomised controlled trial.
743659 - Chlamydia trachomatis and pneumonia in infants: report of two cases.
2234049 - Overall mortality and cancer mortality around french nuclear sites.
7279459 - Water intoxication in normal infants: role of antidiuretic hormone in pathogenesis.
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  72     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1997 Nov 
Date Detail:
Created Date:  1997-12-18     Completed Date:  1997-12-18     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  394-8     Citation Subset:  IM    
Department of Growth and Development, School of Dentistry, University of California, San Francisco, 94143-0442, USA.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Acrocephalosyndactylia / epidemiology*,  ethnology,  genetics
California / epidemiology
Maternal Age*
Paternal Age*
Sex Ratio*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Analysis of the glucokinase gene in Mexican families displaying early-onset non-insulin-dependent di...
Next Document:  Molecular diagnosis of deletions in the human multigene complex of growth and placental lactogen hor...