Vol 85, No 1 (2014)
ARTICLES

open access

Page views 879
Article views/downloads 1079
Get Citation

Connect on Social Media

Connect on Social Media

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).

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.

Article available in PDF format

View PDF Download PDF file