CLINICAL MANIFESTATIONS OF PARTIAL TRISOMY 4p


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DEMİRHAN O. , ÖZGÜNEN F. T. , Tastemir D.

BALKAN JOURNAL OF MEDICAL GENETICS, vol.13, no.2, pp.61-63, 2010 (Journal Indexed in SCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 13 Issue: 2
  • Publication Date: 2010
  • Doi Number: 10.2478/v10034-010-0028-2
  • Title of Journal : BALKAN JOURNAL OF MEDICAL GENETICS
  • Page Numbers: pp.61-63

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.