Document Detail


Study of Down syndrome in 238,942 consecutive births.
MedLine Citation:
PMID:  9599651     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The genetics and the epidemiology of Down syndrome (DS) was studied in the area which is covered by our registry of congenital malformations. For each of the 398 new DS cases which were ascertained during the period 1979 to 1996 more than 50 factors were studied and compared to those from control infants. The prevalence of DS was 1.66 per 1000; 2.2% of the DS cases were stillbirths and 29.4% were induced abortions. Karyotypes were obtained in 391 cases of which all but 23 were 47,+21;9 were mosaics (2.3%), and 14 had translocations (3.6%). Interchromosomal effect was a question in 7 cases. The most common types of associated malformations were cardiac anomalies (46.2%) and intestinal atresias (6.0%). Seasonality or time/space clusters were not observed in spite of the Chernobyl nuclear accident. No paternal age effect was demonstrated; 5.3% of the mothers of DS had 2 previous spontaneous abortions (controls 3.7% p < 0.05). At birth, the DS infants measured and weighted less and their head circumference was lower than in control infants. Weight of placenta was also lower than in control infants. In this material there were 4.5% of consanguineous marriages (P < 0.01). The pregnancies of the DS children were more often complicated by threatened abortions than in the controls, 3.2% of the mothers of the DS children were diabetic controls (1.7%), although the difference was not statistically significant. For all other factors studied no statistically significant difference with respect to controls could be demonstrated.
Authors:
C Stoll; Y Alembik; B Dott; M P Roth
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Annales de génétique     Volume:  41     ISSN:  0003-3995     ISO Abbreviation:  Ann. Genet.     Publication Date:  1998  
Date Detail:
Created Date:  1998-06-25     Completed Date:  1998-06-25     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  0370562     Medline TA:  Ann Genet     Country:  FRANCE    
Other Details:
Languages:  eng     Pagination:  44-51     Citation Subset:  IM    
Affiliation:
Service de Génétique Médicale, Centre Hospitalo-Universitaire, Hôpital de Hautepierre, Strasbourg, France.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / epidemiology,  genetics
Abortion, Induced / statistics & numerical data
Consanguinity
Down Syndrome / epidemiology*,  genetics,  pathology
Female
Fetal Death / epidemiology,  genetics
France / epidemiology
Heart Defects, Congenital / epidemiology,  genetics
Humans
Infant, Newborn
Intestinal Atresia / epidemiology,  genetics
Karyotyping
Maternal Age
Mosaicism
Paternal Age
Power Plants
Pregnancy
Pregnancy Complications / epidemiology
Radioactive Hazard Release
Registries
Risk Factors
Seasons
Translocation, Genetic
Ukraine

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


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