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Scientific article
Case report
English

Prenatal diagnostic indicators of paternal uniparental disomy 14

Contributors

Curtis, Logos Simian; Antonelli, Eric; Vial, Yvan; Rimensberger, Peter; Le Merrer, Martine; Hinard, Christine; Bottani, Armand; Fokstuen, Siv

Published in

Prenatal diagnosis, vol. 26, no. 8, p. 662-666

Publication date

2006

Abstract

To present clinical findings of a child with paternal uniparental isodisomy 14 (pat UPD14) focusing on relevant prenatal characteristics.

Keywords

  • Abnormalities, Multiple/genetics/ultrasonography
  • Adult
  • Aneuploidy
  • Chromosomes, Human, Pair 14/genetics
  • Fatal Outcome
  • Female
  • Humans
  • Intellectual Disability/genetics
  • Pregnancy
  • Radiography, Thoracic
  • Ribs/abnormalities/radiography/ultrasonography
  • Thorax/abnormalities
  • Ultrasonography, Prenatal
  • Uniparental Disomy/genetics

UNIGE affiliation entities

UNIGE research groups

Citation (ISO format)

CURTIS, Logos Simian et al. Prenatal diagnostic indicators of paternal uniparental disomy 14. In: Prenatal diagnosis, 2006, vol. 26, n° 8, p. 662–666. doi: 10.1002/pd.1453

Main files (1)

Article (Published version)

Identifiers

Journal ISSN

0197-3851
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Technical informations

Creation

29/01/2015 13:20:00

First validation

29/01/2015 13:20:00

Update

14/03/2023 23:21:47

Status update

14/03/2023 23:21:47

Last indexation

31/10/2024 00:26:48
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