Phenotypic Variations in Wolfhirschhorn Syndrome

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 growth retardation, severe mental retardation, characteristic “Greek helmet” like face, seizures and midline defects in the brain, heart, palate a...

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Main Authors: E. Sukarova-Angelovska, M. Kocova, V. Sabolich, S. Palcevska, N. Angelkova
Format: Article
Language:English
Published: Sciendo 2014-06-01
Series:Balkan Journal of Medical Genetics
Subjects:
wolf-hirschhorn syndrome (whs)
phenotype
microdeletion syndromes
fluorescent in situ hybridization (fish)
Online Access:https://doi.org/10.2478/bjmg-2014-0021
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spelling doaj-9e9e381a33cb4958a0486082c7bf8e322021-09-05T21:00:30ZengSciendoBalkan Journal of Medical Genetics1311-01602014-06-01171233010.2478/bjmg-2014-0021bjmg-2014-0021Phenotypic Variations in Wolfhirschhorn SyndromeE. Sukarova-Angelovska0M. Kocova1V. Sabolich2S. Palcevska3N. Angelkova4Doz. 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 MacedoniaPediatric Clinic, Medical Faculty, Skopje, Republic of MacedoniaPediatric Clinic, Medical Faculty, Skopje, Republic of MacedoniaPediatric Clinic, Medical Faculty, Skopje, Republic of MacedoniaWolf-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.https://doi.org/10.2478/bjmg-2014-0021wolf-hirschhorn syndrome (whs)phenotypemicrodeletion syndromesfluorescent in situ hybridization (fish)
collection DOAJ
language English
format Article
sources DOAJ
author E. Sukarova-Angelovska
M. Kocova
V. Sabolich
S. Palcevska
N. Angelkova
spellingShingle E. Sukarova-Angelovska
M. Kocova
V. Sabolich
S. Palcevska
N. Angelkova
Phenotypic Variations in Wolfhirschhorn Syndrome
Balkan Journal of Medical Genetics
wolf-hirschhorn syndrome (whs)
phenotype
microdeletion syndromes
fluorescent in situ hybridization (fish)
author_facet E. Sukarova-Angelovska
M. Kocova
V. Sabolich
S. Palcevska
N. Angelkova
author_sort E. Sukarova-Angelovska
title Phenotypic Variations in Wolfhirschhorn Syndrome
title_short Phenotypic Variations in Wolfhirschhorn Syndrome
title_full Phenotypic Variations in Wolfhirschhorn Syndrome
title_fullStr Phenotypic Variations in Wolfhirschhorn Syndrome
title_full_unstemmed Phenotypic Variations in Wolfhirschhorn Syndrome
title_sort phenotypic variations in wolfhirschhorn syndrome
publisher Sciendo
series Balkan Journal of Medical Genetics
issn 1311-0160
publishDate 2014-06-01
description 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.
topic wolf-hirschhorn syndrome (whs)
phenotype
microdeletion syndromes
fluorescent in situ hybridization (fish)
url https://doi.org/10.2478/bjmg-2014-0021
work_keys_str_mv AT esukarovaangelovska phenotypicvariationsinwolfhirschhornsyndrome
AT mkocova phenotypicvariationsinwolfhirschhornsyndrome
AT vsabolich phenotypicvariationsinwolfhirschhornsyndrome
AT spalcevska phenotypicvariationsinwolfhirschhornsyndrome
AT nangelkova phenotypicvariationsinwolfhirschhornsyndrome
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