open access
Clinical expression of Holt-Oram syndrome on the basis of own clinical experience considering prenatal diagnosis
open access
Abstract
Objectives: Holt-Oram syndrome manifests with defects of upper limbs, pectoral girdle and cardiovascular system. The aim of this paper was to present complex clinical picture of the syndrome and its variable expression on the example of the family diagnosed genetically on the neonatal ward, after proband’s prenatal examination.
Maretial and methods: Nine family members were tested for TBX5 gene mutation.
Results: Four of family members were diagnosed with Holt-Oram syndrome and five had correct genetic test results. The diagnosis allowed to identify a genetic risk family and enabled to provide them with genetic counselling.
Conclusions: Diagnosis of Holt-Oram syndrome is possible as early as in prenatal period and it can be verified by genetic tests.
Abstract
Objectives: Holt-Oram syndrome manifests with defects of upper limbs, pectoral girdle and cardiovascular system. The aim of this paper was to present complex clinical picture of the syndrome and its variable expression on the example of the family diagnosed genetically on the neonatal ward, after proband’s prenatal examination.
Maretial and methods: Nine family members were tested for TBX5 gene mutation.
Results: Four of family members were diagnosed with Holt-Oram syndrome and five had correct genetic test results. The diagnosis allowed to identify a genetic risk family and enabled to provide them with genetic counselling.
Conclusions: Diagnosis of Holt-Oram syndrome is possible as early as in prenatal period and it can be verified by genetic tests.
Keywords
Holt-Oram syndrome, congenital disorders, TBX5 gene
About this articleTitle
Clinical expression of Holt-Oram syndrome on the basis of own clinical experience considering prenatal diagnosis
Journal
Issue
Article type
Research paper
Pages
706-710
Published online
2016-10-31
Page views
1582
Article views/downloads
2633
DOI
10.5603/GP.2016.0072
Pubmed
Bibliographic record
Ginekol Pol 2016;87(10):706-710.
Keywords
Holt-Oram syndrome
congenital disorders
TBX5 gene
Authors
Zofia Walencka
Aleksander Jamsheer
Piotr Surmiak
Małgorzata Baumert
Aleksandra Jezela-Stanek
Andrzej Witek
Anna Materna-Kiryluk
Anna Latos-Bieleńska
Magdalena Socha
Anna Sowińska-Seidler
