408kb 15q11.2 microduplication by array comparative genomic hybridization in a fetus presenting with exomphalos, micrognathia, tetralogy of Fallot and normal karyotype: A genetic counseling dilemma in paternal carrier status

Gabriele Tonni, Maria Bellotti, Marcella Palmisano, Viola Alesi, Marta Bertoli, Maria Paola Bonasoni

Research output: Contribution to journalArticlepeer-review

Abstract

Exomphalos may be associated with chromosomal abnormalities and syndromes. Severe exomphalos (herniation of liver, midgut and spleen) associated with increased nuchal translucency was seen at first trimester screening test. Karyotype by chorionic villus sampling showed normal male fetus. Follow up scan at 16 and 18 weeks of gestation confirmed the severe exomphalos and detected micrognathia and tetralogy of Fallot. Array comparative genomic hybridization (a-CGH) further demonstrated a 408kb 15q11.2 microduplication, with the father-to-be as healthy carrier. This is the first case of an association between 15q11.2 micorduplication and fetal sonographic anomalies. Genetic counseling for estimation of recurrent risk of congenital anomalies is discussed.

Original languageEnglish
Pages (from-to)65-70
Number of pages6
JournalCongenital Anomalies
Volume55
Issue number1
DOIs
Publication statusPublished - Feb 1 2015
Externally publishedYes

Keywords

  • Array-comparative genomic hybridization
  • Exomphalos
  • Microduplication
  • Prenatal ultrasound diagnosis
  • Tetralogy of Fallot

ASJC Scopus subject areas

  • Developmental Biology
  • Pediatrics, Perinatology, and Child Health
  • Embryology
  • Medicine(all)

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