Document Detail

Prenatal diagnosis of an 8p23.1 deletion in a fetus with a diaphragmatic hernia and review of the literature.
MedLine Citation:
PMID:  9826897     Owner:  NLM     Status:  MEDLINE    
The prenatal diagnosis of an 8p23.1 deletion is reported. The diagnosis was ascertained at 22 weeks of gestation because of the discovery of a diaphragmatic hernia at ultrasound. Following cytogenetic studies and counselling, the pregnancy was terminated. An autopsy confirmed the presence of a diaphragmatic hernia and revealed also the existence of an atrio-ventricular canal (AVC) and an atrial septal defect (ASD). The clinical features of this antenatally diagnosed case are compared with those observed in 16 previously reported cases with an identical deletion of the short arm of chromosome 8. This suggests that a deletion 8p23.1 should be considered whenever a diaphragmatic hernia and/or an AVC is detected on ultrasound.
L Faivre; N Morichon-Delvallez; G Viot; F Narcy; S Loison; L Mandelbrot; M C Aubry; V Raclin; P Edery; A Munnich; M Vekemans
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  18     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  1998 Oct 
Date Detail:
Created Date:  1999-01-28     Completed Date:  1999-01-28     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  1055-60     Citation Subset:  IM    
Département de Génétique, Hôpital Necker Enfants Malades, Paris, France.
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MeSH Terms
Chromosomes, Human, Pair 8*
Craniofacial Abnormalities / genetics
Gene Deletion*
Hernia, Diaphragmatic / genetics*,  ultrasonography
Prenatal Diagnosis*
Ultrasonography, Prenatal

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