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Prenatal diagnosis of 22q11.2 deletion syndrome in twin pregnancy: A case report
Author(s) -
Gul Ahmet,
Gungorduk Kemal,
Turan Isil,
Yildirim Gokhan,
Gedikbasi Ali,
Özdemir Aykut
Publication year - 2012
Publication title -
journal of clinical ultrasound
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.272
H-Index - 61
eISSN - 1097-0096
pISSN - 0091-2751
DOI - 10.1002/jcu.21992
Subject(s) - digeorge syndrome , medicine , tetralogy of fallot , prenatal diagnosis , fetus , pregnancy , genetic disorder , fluorescence in situ hybridization , incidence (geometry) , chromosome , obstetrics , pediatrics , genetics , heart disease , disease , gene , biology , physics , psychiatry , optics
Chromosome 22q11.2 deletion syndrome is a common genetic disorder, also known as DiGeorge syndrome. It occurs in approximately 1:4,000 births, and the incidence is increasing due to affected parents bearing their own affected children. We report the prenatal diagnosis of 22q11.2 deletion syndrome by fluorescence in situ hybridization in twin fetuses having tetralogy of Fallot with absent pulmonary valve. © 2012 Wiley Periodicals, Inc. J Clin Ultrasound 41 :6–9, 2013