<abstract xmlns="http://www.w3.org/1999/xhtml"><p> Wolf-Hirschhorn syndrome (WHS) is a rare chromosomal disorder caused by terminal deletion of the short arm of chromosome 4. The clinical picture includes growth retardation, severe mental retardation, characteristic “Greek helmet” like face, seizures and midline defects in the brain, heart, palate and genitalia. Recently-used molecular techniques increase the number of diagnosed cases due to the detection of smaller deletions. The severity of the clinical presentation is variable depending on the haploinsufficiency of genes in a deleted region. </p><p>We present six children with WHS with variable clinical appearance. The assessment of several elements (facial dysmorphism, mental retardation, additional congenital anomalies) provided classification into minor, mild or severe forms. Three of the children had a visible cytogenetic deletion on chromosome 4p, two had microdeletions detected with fluorescent in situ hybridization (FISH), and one child with a less characteristic clinical picture had a mosaic type of the deletion. Correlation between the clinical presentation and the length of the deleted region was confirmed.</p></abstract>

Wolf-Hirschhorn syndrome (WHS) is a rare chromosomal disorder caused by terminal deletion of the short arm of chromosome 4. The clinical picture includes growth retardation, severe mental retardation, characteristic “Greek helmet” like face, seizures and midline defects in the brain, heart, palate and genitalia. Recently-used molecular techniques increase the number of diagnosed cases due to the detection of smaller deletions. The severity of the clinical presentation is variable depending on the haploinsufficiency of genes in a deleted region. We present six children with WHS with variable clinical appearance. The assessment of several elements (facial dysmorphism, mental retardation, additional congenital anomalies) provided classification into minor, mild or severe forms. Three of the children had a visible cytogenetic deletion on chromosome 4p, two had microdeletions detected with fluorescent in situ hybridization (FISH), and one child with a less characteristic clinical picture had a mosaic type of the deletion. Correlation between the clinical presentation and the length of the deleted region was confirmed.

Phenotypic Variations in Wolfhirschhorn Syndrome

Doz. Elena Sukarova-Angelovska, Pediatric Clinic, Medical Faculty, Vodnjanska 17, 1000 Skopje, Republic of Macedonia. Tel.: +389-70358582. Fax: +389-22439301.

Pediatric Clinic, Medical Faculty, Skopje, Republic of Macedonia

Balkan Journal of Medical Genetics

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

{"article-title":"Phenotypic Variations in Wolfhirschhorn Syndrome"}

Wolf-Hirschhorn syndrome (WHS) is a rare chromosomal disorder caused by terminal deletion of the short arm of chromosome 4. The clinical picture includes...

Phenotypic Variations in Wolfhirschhorn Syndrome

Publié en ligne: 11 déc. 2014

Pages: 23 - 30

DOI: https://doi.org/10.2478/bjmg-2014-0021

Mots clés
Wolf-Hirschhorn syndrome (WHS), Phenotype, Microdeletion syndromes, Fluorescent in situ hybridization (FISH)

© Balkan Journal of Medical Genetics

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Phenotypic Variations in Wolfhirschhorn Syndrome

Publié en ligne: 11 déc. 2014

Pages: 23 - 30

DOI: https://doi.org/10.2478/bjmg-2014-0021

Mots clésWolf-Hirschhorn syndrome (WHS), Phenotype, Microdeletion syndromes, Fluorescent in situ hybridization (FISH)

© Balkan Journal of Medical Genetics

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Mots clés
Wolf-Hirschhorn syndrome (WHS), Phenotype, Microdeletion syndromes, Fluorescent in situ hybridization (FISH)