Prenatal diagnosis of 22q11.2 deletion syndrome in twin pregnancy: A case report |
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Authors: | Ahmet Gul MD Kemal Gungorduk MD Isil Turan MD Gokhan Yildirim MD Ali Gedikbasi MD Aykut Özdemir MD |
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Affiliation: | 1. Maternal and Fetal Unit, Istanbul Bakirkoy Women and Children Hospital, , Istanbul, Turkey;2. Mardin Women's and Children's Hospital, , Mardin, Turkey;3. ?zmir Tepecik Research Hospital, , ?zmir, Turkey |
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Abstract: | 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 |
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Keywords: | 22q11.2 deletion syndrome DiGeorge syndrome tetralogy of Fallot with absent pulmonary valve obstetrics fetal malformations |
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