Document Detail


Swedish survey on extra structurally abnormal chromosomes in 39 105 consecutive prenatal diagnoses: prevalence and characterization by fluorescence in situ hybridization.
MedLine Citation:
PMID:  7877949     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
During 7 years (1985-1992), 39,105 consecutive prenatal diagnoses (34,908 amniocenteses and 4197 chorionic villus samples) were made at the five largest clinical genetic laboratories in Sweden. Thirty-one cases of extra structurally abnormal chromosomes (ESACs) were found, giving a total prevalence of 0.8 per 1000. Twelve ESACs were inherited, 14 were de novo and in five the parental origin was unknown. This gives an estimated prevalence of 0.3-0.4 per 1000 for familial and 0.4-0.5 per 1000 for de novo ESACs. Retrospectively, the ESACs were characterized by fluorescence in situ hybridization (FISH). In nine cases, no material was available for this analysis. In 21 of the remaining 22 cases, the chromosomal origin could be identified by FISH. Seventeen of these (81 per cent) were derived from the acrocentric chromosomes, of which 13 originated from chromosome 15 (62 per cent). The most common ESAC was the inv dup(15) (57 per cent). Two cases were derived from chromosome 22, one from chromosome 14, and one from either chromosome 13 or chromosome 21. The four remaining cases consisted to two i(18p)s and two small ring chromosomes derived from chromosomes 4 and 19, respectively.
Authors:
E Blennow; T H Bui; U Kristoffersson; M Vujic; G Annerén; E Holmberg; M Nordenskjöld
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  14     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  1994 Nov 
Date Detail:
Created Date:  1995-04-06     Completed Date:  1995-04-06     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  1019-28     Citation Subset:  IM    
Affiliation:
Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.
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MeSH Terms
Descriptor/Qualifier:
Amniocentesis
Chorionic Villi Sampling
Chromosome Aberrations* / genetics
Data Collection
Female
Humans
In Situ Hybridization, Fluorescence*
Infant, Newborn
Phenotype
Pregnancy
Prevalence
Prognosis
Retrospective Studies
Sweden

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


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