Williams-Beuren syndrome: the prenatal phenotype.

Abstract

Using prenatal BACs-on-Beads technology, the first prenatal case of Williams-Beuren syndrome (WBS) was diagnosed.

In light of this result, an ultrasound scan confirmed the presence of well-characterized features of WBS. This case report emphasizes the fact that new genomic technologies will generate prenatal information and provide helpful additional information.

Full Text

• DOI - American journal of obstetrics and gynecology (DOI)
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Subjects

• Abnormalities, Multiple
• Female
• Genetic Testing
• Humans
• Phenotype
• Pregnancy
• Prenatal Diagnosis
• Williams Syndrome
• Young Adult

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Authors

• Thomas Popowski
• François Vialard
• Brigitte Leroy
• Jean Philippe Bault
• Denise Molina-Gomes

Publication date

2011-11-25

Journal

Journal topics

• Gynecology
• Obstetrics

Language

Eng.

Copyright

American journal of obstetrics and gynecology

Department of Cytogenetics, Fetal Pathology, Obstetrics and Gynaecology, Poissy Saint-Germain-en-Laye Hospital and Versailles Saint-Quentin-en-Yvelines University, Versailles, France. thomas.popof [at] wanadoo.fr

Release reference

Am J Obstet Gynecol. 2011 Dec;205(6):e6-8

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