Document Detail

Prenatal diagnosis of complete sole trisomy 1q.
MedLine Citation:
PMID:  11438944     Owner:  NLM     Status:  MEDLINE    
The prenatal diagnosis of a complete trisomy of the long arm of chromosome 1 is reported. Major ultrasound findings included: nuchal thickening, bi-temporal narrowing, a single choroid plexus cyst, and mild ventriculomegaly. There was a mass in the chest and abdomen, pleural effusion, ascites and a hyperechoic bowel. Skin edema was present. The fetus died at 26 weeks' gestation. A literature review is presented of 17 de novo and two inherited cases with only trisomy 1q. Of note is the fact that 3/5 prenatally detected 1q trisomies have teratomas. A review of the literature reveals a dismal outcome for trisomy 1q cases if the duplication involves bands 1q25-->q32.
M J Pettenati; M Berry; V Shashi; J Hartley Bowen; M Harper
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  21     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  2001 Jun 
Date Detail:
Created Date:  2001-07-04     Completed Date:  2001-09-13     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  England    
Other Details:
Languages:  eng     Pagination:  435-40     Citation Subset:  IM    
Department of Pediatrics, Section on Medical Genetics, Wake Forest University School of Medicine, Winston-Salem, NC 27157, USA.
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MeSH Terms
Chromosomes, Human, Pair 1*
Diagnosis, Differential
Fatal Outcome
In Situ Hybridization, Fluorescence
Infant, Newborn
Prenatal Diagnosis*
Trisomy / diagnosis*,  genetics*

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