Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: Report of two cases and review of the literature

Stavros Sifakis, Emmanouil Manolakos, Annalisa Vetro, Dimitra Kappou, Panagiotis Peitsidis, Maria Kontodiou, Antonios Garas, Nikolaos Vrachnis, Anastasia Konstandinidou, Orsetta Zuffardi, Sandro Orru, Ioannis Papoulidis

Research output: Contribution to journalArticle

Abstract

Wolf-Hirschhorn syndrome (WHS) is a well known genetic condition caused by a partial deletion of the short arm of chromosome 4. The great variability in the extent of the 4p deletion and the possible contribution of additional genetic rearrangements lead to a wide spectrum of clinical manifestations. The majority of the reports of prenatally diagnosed WHS cases are associated with large 4p deletions identified by conventional chromosome analysis; however, the widespread clinical use of novel molecular techniques such as array comparative genomic hybridization (a-CGH) has increased the detection rate of submicroscopic chromosomal aberrations associated with WHS phenotype. We provide a report of two fetuses with WHS presenting with intrauterine growth restriction as an isolated finding or combined with oligohydramnios and abnormal Doppler waveform in umbilical artery and uterine arteries. Standard karyotyping demonstrated a deletion on chromosome 4 in both cases [del(4)(p15.33) and del(4)(p15.31), respectively] and further application of a-CGH confirmed the diagnosis and offered a precise characterization of the genetic defect. A detailed review of the currently available literature on the prenatal diagnostic approach of WHS in terms of fetal sonographic assessment and molecular cytogenetic investigation is also provided.

Original languageEnglish
Article number12
JournalMolecular Cytogenetics
Volume5
Issue number1
DOIs
Publication statusPublished - 2012

Keywords

  • "Greek warrior" helmet profile
  • 4p-syndrome
  • Comparative genomic hybridization array
  • Fluorescent situ hybridization
  • Prenatal diagnosis
  • Wolf-Hirschhorn syndrome

ASJC Scopus subject areas

  • Genetics
  • Molecular Biology
  • Genetics(clinical)
  • Biochemistry
  • Molecular Medicine
  • Biochemistry, medical

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    Sifakis, S., Manolakos, E., Vetro, A., Kappou, D., Peitsidis, P., Kontodiou, M., Garas, A., Vrachnis, N., Konstandinidou, A., Zuffardi, O., Orru, S., & Papoulidis, I. (2012). Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: Report of two cases and review of the literature. Molecular Cytogenetics, 5(1), [12]. https://doi.org/10.1186/1755-8166-5-1222373435