open access

Vol 85, No 1 (2014)
ARTICLES
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Prenatal diagnosis of Langer-Giedion Syndrome confirmed by bac s-on-beads technique

Krzysztof Piotrowski, Aleksandra Pietrzyk, Małgorzata Henkelman, Stanisław Zajączek, Wojciech Halec, Jerzy Węgrzynowski
DOI: 10.17772/gp/1694
·
Ginekol Pol 2014;85(1).

open access

Vol 85, No 1 (2014)
ARTICLES

Abstract

Langer-Giedion Syndrome (LGS), with characteristic phenotypic features including craniofacial dysmorphic signs, postnatal growth retardation and skeletal abnormalities, mental impairment, urogenital malformations and heart defects, is caused by partial deletions of the long arm of chromosome 8. We present a case of a female fetus with LGS. The diagnosis was molecularly proven with the BACs on Beads™ method at 32 weeks of gestation. To the best of our knowledge, prenatal recognition of that genetic defect had previously been made in only one case. Also, it has never been described before.

Abstract

Langer-Giedion Syndrome (LGS), with characteristic phenotypic features including craniofacial dysmorphic signs, postnatal growth retardation and skeletal abnormalities, mental impairment, urogenital malformations and heart defects, is caused by partial deletions of the long arm of chromosome 8. We present a case of a female fetus with LGS. The diagnosis was molecularly proven with the BACs on Beads™ method at 32 weeks of gestation. To the best of our knowledge, prenatal recognition of that genetic defect had previously been made in only one case. Also, it has never been described before.
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Keywords

LGS, prenatal diagnosis, molecular methods, BACs-on-Beads

About this article
Title

Prenatal diagnosis of Langer-Giedion Syndrome confirmed by bac s-on-beads technique

Journal

Ginekologia Polska

Issue

Vol 85, No 1 (2014)

DOI

10.17772/gp/1694

Bibliographic record

Ginekol Pol 2014;85(1).

Keywords

LGS
prenatal diagnosis
molecular methods
BACs-on-Beads

Authors

Krzysztof Piotrowski
Aleksandra Pietrzyk
Małgorzata Henkelman
Stanisław Zajączek
Wojciech Halec
Jerzy Węgrzynowski

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