Document Detail

Prenatal diagnostic indicators of paternal uniparental disomy 14.
MedLine Citation:
PMID:  16715538     Owner:  NLM     Status:  MEDLINE    
OBJECTIVES: To present clinical findings of a child with paternal uniparental isodisomy 14 (pat UPD14) focusing on relevant prenatal characteristics. METHODS/RESULTS: Ultrasonography at 23 weeks of gestation of a 37-year-old multigravid woman revealed a fetus with polyhydramnios, small thorax, and short, distinctively angled ribs. Fetal karyotype was 46,XY. The child was born spontaneously at 35 weeks with poor neonatal adaptation. From birth, he presented with severe respiratory insufficiency due to severe thoracic malformation. Clinical examination revealed a small, bell-shaped thorax, redundant lax skin, mild contractures of the fingers and dysmorphic facial features. Chest X rays showed short, abnormally curved ribs that suggested the possibility of pat UPD14, which was confirmed by molecular analysis. CONCLUSION: Pat UPD14 is associated with a distinct clinical phenotype. Prognosis is poor because of severe respiratory insufficiency and neurodevelopmental retardation. Our report confirms salient postnatal signs of previous descriptions, especially the characteristic radiological abnormalities with ribs showing a 'coat-hanger' configuration. Retrospective fetal ultrasound of our case allowed the identification of this pathognomonic feature prenatally, which makes it possible to consider pat UPD14 at routine prenatal sonography, in particular in combination with a small bell-shaped thorax and polyhydramnios.
Logos Curtis; Eric Antonelli; Yvan Vial; Peter Rimensberger; Martine Le Merrer; Christine Hinard; Armand Bottani; Siv Fokstuen
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  26     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  2006 Aug 
Date Detail:
Created Date:  2006-08-28     Completed Date:  2006-12-12     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  England    
Other Details:
Languages:  eng     Pagination:  662-6     Citation Subset:  IM    
Division of Medical Genetics, Geneva University Hospitals, Geneva, Switzerland.
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MeSH Terms
Abnormalities, Multiple / genetics,  ultrasonography*
Chromosomes, Human, Pair 14 / genetics*
Fatal Outcome
Mental Retardation / genetics*
Radiography, Thoracic
Ribs / abnormalities*,  radiography,  ultrasonography
Thorax / abnormalities*
Ultrasonography, Prenatal*
Uniparental Disomy / genetics*

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