Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports

Overview

Journal Case Rep Genet

Publisher Wiley

Date 2012 Dec 11

PMID 23227376

Citations 6

Authors

F Sheth

O R Akinde

C Datar

O V Adeteye

J Sheth

Affiliations

Soon will be listed here.

Abstract

The Wolf-Hirschhorn syndrome (WHS) is a multiple malformation and contiguous gene syndrome resulting from the deletion encompassing a 4p16.3 region. A microscopically visible terminal deletion on chromosome 4p (4p16→pter) was detected in Case 1 with full blown features of WHS. The second case which had an interstitial microdeletion encompassing WHSC 1 and WHSC 2 genes at 4p16.3 presented with less striking clinical features of WHS and had an apparently "normal" karyotype. The severity of the clinical presentation was as a result of haploinsufficiency and interaction with surrounding genes as well as mutations in modifier genes located outside the WHSCR regions. The study emphasized that an individual with a strong clinical suspicion of chromosomal abnormality and a normal conventional cytogenetic study should be further investigated using molecular cytogenetic techniques such as fluorescence in situ hybridization (FISH) or array-comparative genomic hybridization (a-CGH).

Citing Articles

Genotype-phenotype correlation of deletions and duplications of 4p: case reports and literature review.

Zhang X, Lu H, Yang H, Ji Y, Liu H, Liu W Front Genet. 2023; 14:1174314.

PMID: 37388934 PMC: 10300434. DOI: 10.3389/fgene.2023.1174314.

Prenatal sonographic findings in confirmed cases of Wolf-Hirschhorn syndrome.

Simonini C, Hoopmann M, Kagan K, Schroder T, Gembruch U, Geipel A BMC Pregnancy Childbirth. 2022; 22(1):327.

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Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review.

Gavril E, Luca A, Curpan A, Popescu R, Resmerita I, Panzaru M Children (Basel). 2021; 8(9).

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The Many Faces of : as a Model System to Study Wolf-Hirschhorn Syndrome.

Lasser M, Pratt B, Monahan C, Kim S, Lowery L Front Physiol. 2019; 10:817.

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Excellent response to levetiracetam in epilepsy with Wolf-Hirschhorn syndrome.

Karalok Z, Arhan E, Erdogan K, Gurkas E Childs Nerv Syst. 2015; 32(1):9-11.

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