Prenatal diagnostic indicators of paternal uniparental disomy 14

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

doi:10.1002/pd.1453

Scientific article

Case report

English

Prenatal diagnostic indicators of paternal uniparental disomy 14

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

Published inPrenatal diagnosis, vol. 26, no. 8, p. 662-666

Publication date2006

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

Affiliation entities

Research groups

Maladies pulmonaires aigues et pathologies cardiaques congénitales (697)

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

Article (Published version)

Identifiers

PID : unige:73103
DOI : 10.1002/pd.1453
PMID : 16715538

Journal ISSN0197-3851

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Update14/03/2023 23:21:47

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Prenatal diagnostic indicators of paternal uniparental disomy 14

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

Technical informations