title: Prenatal diagnosis of Langer-Giedion Syndrome confirmed by BACs-on-Beads technique.
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.
authors: Unit of Cytogenetics, Department of Pathology, Pomeranian Medical University, Szczecin, Poland. kjp@onet.pl
authors: Krzysztof
authors: K
authors: Piotrowski
authors: Department of Obstetrics and Gynecology Zdroje, Szczecin, Poland.
authors: Wojciech
authors: W
authors: Halec
authors: Department of Obstetrics and Gynecology Zdroje, Szczecin, Poland.
authors: Jerzy
authors: J
authors: Wegrzynowski
authors: Unit of Cytogenetics, Department of Pathology, Pomeranian Medical University, Szczecin, Poland.
authors: Aleksandra
authors: A
authors: Pietrzyk
authors: Unit of Cytogenetics, Department of Pathology, Pomeranian Medical University, Szczecin, Poland.
authors: Małgorzata
authors: M
authors: Henkelman
authors: Unit of Cytogenetics, Department of Pathology, Pomeranian Medical University, Szczecin, Poland.
authors: Stanisław
authors: S
authors: Zajaczek
mesh_terms: D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D005260:Female; D005313:Fetal Death; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D007621:Karyotyping; D015826:Langer-Giedion Syndrome / Q000000981:diagnostic imaging* / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D014463:Ultrasonography