open access

Vol 87, No 10 (2016)
Research paper
Published online: 2016-10-31
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Clinical expression of Holt-Oram syndrome on the basis of own clinical experience considering prenatal diagnosis

Zofia Walencka, Aleksander Jamsheer, Piotr Surmiak, Małgorzata Baumert, Aleksandra Jezela-Stanek, Andrzej Witek, Anna Materna-Kiryluk, Anna Latos-Bieleńska, Magdalena Socha, Anna Sowińska-Seidler
·
Pubmed: 27958623
·
Ginekol Pol 2016;87(10):706-710.

open access

Vol 87, No 10 (2016)
ORIGINAL PAPERS Obstetrics
Published online: 2016-10-31

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.

Get Citation

Keywords

Holt-Oram syndrome, congenital disorders, TBX5 gene

About this article
Title

Clinical expression of Holt-Oram syndrome on the basis of own clinical experience considering prenatal diagnosis

Journal

Ginekologia Polska

Issue

Vol 87, No 10 (2016)

Article type

Research paper

Pages

706-710

Published online

2016-10-31

Page views

1773

Article views/downloads

2981

DOI

10.5603/GP.2016.0072

Pubmed

27958623

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

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