Clinical Manifestations of Partial Trisomy 4p

Demirhan, O; Özgünen, F; Taştemir, D

doi:10.2478/v10034-010-0028-2

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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Clinical Manifestations of Partial Trisomy 4p

Abstract

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