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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Online Access: | https://doi.org/10.2478/bjmg-2014-0021 |
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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 |
_version_ |
1717782782837522432 |