Prenatal diagnostic indicators of paternal uniparental disomy 14

Details

Serval ID
serval:BIB_4223AE2BBAED
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Prenatal diagnostic indicators of paternal uniparental disomy 14
Journal
Prenatal Diagnosis
Author(s)
Curtis  L., Antonelli  E., Vial  Y., Rimensberger  P., Le Merrer  M., Hinard  C., Bottani  A., Fokstuen  S.
ISSN
0197-3851 (Print)
Publication state
Published
Issued date
08/2006
Volume
26
Number
8
Pages
662-6
Notes
Case Reports
Journal Article --- Old month value: Aug
Abstract
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.
Keywords
Abnormalities, Multiple/genetics/*ultrasonography Adult Aneuploidy Chromosomes, Human, Pair 14/*genetics Fatal Outcome Female Humans Mental Retardation/*genetics Pregnancy Radiography, Thoracic Ribs/*abnormalities/radiography/ultrasonography Thorax/*abnormalities *Ultrasonography, Prenatal Uniparental Disomy/*genetics
Pubmed
Web of science
Create date
25/01/2008 11:17
Last modification date
20/08/2019 13:43
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