CLINICAL MANIFESTATIONS OF PARTIAL TRISOMY 4p
Demirhan O, Özgünen FT, Taştemir D
*Corresponding Author: Osman Demirhan, Department of Medical Biology and Genetics, Faculty of Medicine, Çukurova University, 01330 Balcalı-Adana/Turkey; Tel. +90-322-338-7140; Fax. +90-322-338-7140; E-mail. osdemir@cu.edu.tr
page: 61
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Abstract

We made the diagnosis prenatally from cytogenetic analysis of amniocytes cultured following amniocentesis performed at 20 weeks’ gestation on a woman in whom ultrasound examination of the female fetus showed severe growth retardation, lung and kidney hypoplasia, and a congenital heart defect. Analysis revealed a de novo trisomy of the terminal short arm of chromosome 4 (4p16.1-pter). The parents opted to terminate the pregnancy. Fetopathological examination showed dysmorphic features and other abnormalities consistent with clinical manifestations of partial trisomy 4p.



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