title: Prenatal diagnostic indicators of paternal uniparental disomy 14.
abstract: OBJECTIVE
  To present clinical findings of a child with paternal uniparental isodisomy 14 (pat UPD14) focusing on relevant prenatal characteristics.
  
  
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Division of Medical Genetics, Geneva University Hospitals, Geneva, Switzerland.
authors.forename: Logos
authors.initials: L
authors.lastname: Curtis
authors.forename: Eric
authors.initials: E
authors.lastname: Antonelli
authors.forename: Yvan
authors.initials: Y
authors.lastname: Vial
authors.forename: Peter
authors.initials: P
authors.lastname: Rimensberger
authors.forename: Martine
authors.initials: M
authors.lastname: Le Merrer
authors.forename: Christine
authors.initials: C
authors.lastname: Hinard
authors.forename: Armand
authors.initials: A
authors.lastname: Bottani
authors.forename: Siv
authors.initials: S
authors.lastname: Fokstuen
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics; D000328:Adult; D000782:Aneuploidy; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D011247:Pregnancy; D013902:Radiography, Thoracic; D012272:Ribs / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013909:Thorax / Q000002:abnormalities*; D016216:Ultrasonography, Prenatal; D024182:Uniparental Disomy / Q000235:genetics*