Clinical Manifestations of Partial Trisomy 4p

O Demirhan; F Özgünen; D Taştemir

doi:10.2478/v10034-010-0028-2

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Clinical Manifestations of Partial Trisomy 4p

Balkan Journal of Medical Genetics

Volume 13 (2010): Issue 2 (December 2010)

By: O Demirhan, F Özgünen and D Taştemir

Open Access

|Jan 2011

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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Articles in this issue

DOI: https://doi.org/10.2478/v10034-010-0028-2 | Journal eISSN: 2199-5761 | Journal ISSN: 1311-0160

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Language: English

Page range: 61 - 63

Published on: Jan 20, 2011

Published by: Macedonian Academy of Sciences and Arts

In partnership with: Paradigm Publishing Services

Publication frequency: 2 issues per year

Keywords:

Partial trisomy 4p,

Prenatal diagnosis,

Congenital heart defects,

Lung and kidney hypoplasia

Related subjects:

Medicine,

Basic medical science,

Basic medical science, other

© 2011 O Demirhan, F Özgünen, D Taştemir, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons License.

Volume 13 (2010): Issue 2 (December 2010)