TY - JOUR
T1 - Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array
T2 - Report of two cases and review of the literature
AU - Sifakis, Stavros
AU - Manolakos, Emmanouil
AU - Vetro, Annalisa
AU - Kappou, Dimitra
AU - Peitsidis, Panagiotis
AU - Kontodiou, Maria
AU - Garas, Antonios
AU - Vrachnis, Nikolaos
AU - Konstandinidou, Anastasia
AU - Zuffardi, Orsetta
AU - Orru, Sandro
AU - Papoulidis, Ioannis
PY - 2012
Y1 - 2012
N2 - 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.
AB - 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.
KW - "Greek warrior" helmet profile
KW - 4p-syndrome
KW - Comparative genomic hybridization array
KW - Fluorescent situ hybridization
KW - Prenatal diagnosis
KW - Wolf-Hirschhorn syndrome
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U2 - 10.1186/1755-8166-5-1222373435
DO - 10.1186/1755-8166-5-1222373435
M3 - Article
AN - SCOPUS:84857398866
VL - 5
JO - Molecular Cytogenetics
JF - Molecular Cytogenetics
SN - 1755-8166
IS - 1
M1 - 12
ER -