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

[wolf-hirschhorn syndrome]

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 4 p 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 4 p 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 )(p 15 .33 ) and del (4 )(p 15 .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 .

Diseases
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Diseases presenting "respectively" symptom

adrenal incidentaloma

allergic bronchopulmonary aspergillosis

alpha-thalassemia

benign recurrent intrahepatic cholestasis

carcinoma of the gallbladder

congenital adrenal hyperplasia

congenital diaphragmatic hernia

congenital toxoplasmosis

cushing syndrome

cystinuria

dedifferentiated liposarcoma

dentin dysplasia

dentinogenesis imperfecta

epidermolysis bullosa simplex

esophageal squamous cell carcinoma

familial hypocalciuric hypercalcemia

harlequin ichthyosis

hereditary cerebral hemorrhage with amyloidosis

hirschsprung disease

hodgkin lymphoma, classical

holt-oram syndrome

kallmann syndrome

lamellar ichthyosis

liposarcoma

neonatal adrenoleukodystrophy

neuralgic amyotrophy

oculocutaneous albinism

oligodontia

oral submucous fibrosis

pendred syndrome

pleomorphic liposarcoma

primary effusion lymphoma

proteus syndrome

pyruvate dehydrogenase deficiency

scrub typhus

triple a syndrome

von hippel-lindau disease

well-differentiated liposarcoma

wolf-hirschhorn syndrome

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