Role of CGH array in the diagnosis of autosomal recessive disease: a case of Ellis–van Creveld syndrome. (2nd October 2014)

• Record Type: Journal Article
• Authors: D'Ambrosio, Valentina; Votino, Carmela; Cos, Teresa; Boulanger, Sebastien; Dheedene, Annelies; Jani, Jacques; Keymolen, Kathelijn
• Is Part Of: Prenatal diagnosis. Volume 35:Number 1(2015:Jan.)
• Page Start: 97
• Page End: 99
• Publication Date: 2014-10-02
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.4490
• Languages: English
• ISSNs: 0197-3851

Abstract

<abstract abstract-type="short"> <title> <x xml:space="preserve">Abstract</x> </title> <p> <bold>What's already known about this topic?</bold> <list id="pd4490-list-2001" list-type="bullet"> <list-item id="pd4490-li-1001"> <p>Array CGH permits high‐resolution genome analysis and allows for the detection of submicroscopic chromosomal deletions and duplications.</p> </list-item> <list-item id="pd4490-li-1002"> <p>Today, this technology is frequently used in prenatal diagnosis.</p> </list-item> </list> </p> <p> <bold>What does this study add?</bold> <list id="pd4490-list-2002" list-type="bullet"> <list-item id="pd4490-li-1003"> <p>We describe for the second time in the literature a particular form of compound heterozygosity in Ellis–van Creveld syndrome.</p> </list-item> <list-item id="pd4490-li-1004"> <p>Array CGH can uncover monogenic autosomal recessive disorders.</p> </list-item> <list-item id="pd4490-li-1005"> <p>Array CGH can be helpful in unraveling complex prenatal cases.</p> </list-item> </list> </p> </abstract>