Document Detail


Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and a review of the literature.
MedLine Citation:
PMID:  10073907     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The prenatal diagnosis of a 1p36 deletion is reported. The pregnancy was ascertained at 24 weeks of gestation because of the discovery of multiple malformations at ultrasound including hypotelorism, moderate cerebral ventricular dilatation and Ebstein anomaly with secondary cardiac failure. Following cytogenetic studies and counselling, the pregnancy was terminated and a fetal autopsy performed. The phenotype of this antenatally-diagnosed case is compared with the clinical features of 44 previously reported cases with an identical deletion of the short arm of chromosome 1p36.
Authors:
L Faivre; N Morichon-Delvallez; G Viot; J Martinovic; M P Pinson; J P Aubry; V Raclin; P Edery; Y Dumez; A Munnich; M Vekemans
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  19     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  1999 Jan 
Date Detail:
Created Date:  1999-04-29     Completed Date:  1999-04-29     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  49-53     Citation Subset:  IM    
Affiliation:
Département de Génétique, Hôpital Necker Enfants Malades, Paris, France.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Adult
Chromosomes, Human, Pair 1*
Facial Bones / abnormalities
Female
Gene Deletion*
Humans
Hydrops Fetalis / genetics
In Situ Hybridization, Fluorescence
Karyotyping
Male
Pregnancy
Prenatal Diagnosis*
Ultrasonography, Prenatal

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


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