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Abstract

January - March 2023 | Vol. 16 | Issue 1 | 07-11
Novel Findings in a Fetus with 4p Deletion Syndrome: Case Report and Review of Literature
Ashok Khurana1, Komal Uppal2, Gaurika Sahi3, Lena Gupta3, Seema Thakur4
1 The Ultrasound Lab, Defence Colony, New Delhi, India 2 Department of Paediatrics, Lok Nayak Hospital, New Delhi, India 3 Fortis La Femme Hospital, New Delhi, India 4 Genetic and Fetal Diagnosis Unit, Fortis Hospital, Delhi, India
Address for Correspondence Email: seematranjan@gmail.com
 
Abstract
The 4p deletion syndrome, also known as Wolf -Hirschhorn Syndrome (WHS), is caused by partial deletion of the short arm of chromosome 4. The syndrome is well known and extensively described in the pediatric age groups and young adults and about 83 prenatal cases have been described to date in world literature. But literature on the fetal phenotype and genotype of WHS is limited. We are reporting here the ultrasound features, fetal autopsy, and molecular diagnosis in a fetus with WHS, in whom the diagnosis was confirmed through chromosomal microarray of the amniotic fluid sample which revealed a genomic deletion of 17.3 Mb on cytoband 4p16.3p15.32 of chromosome 4.Dilated pulmonary artery and narrow aorta noted in this fetus are novel findings not reported earlier.
 
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