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Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Fei Hong / Mericq, Veronica / Toppari, Jorma


IMPACT FACTOR 2018: 1.239

CiteScore 2018: 1.22

SCImago Journal Rank (SJR) 2018: 0.507
Source Normalized Impact per Paper (SNIP) 2018: 0.562

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2191-0251
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Volume 29, Issue 5

Issues

A 33-year-old male patient with paternal derived duplication of 14q11.2–14q22.1~22.3: clinical course, phenotypic and genotypic findings

Bardo Wannenmacher
  • Corresponding author
  • Department of Pediatric Cardiology, Heart Center Leipzig, Strümpellstr. 39, 04289 Leipzig, Germany
  • Hospital for Children and Adolescents, University of Leipzig, Germany
  • Email
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Diana Mitter / Franziska Kießling / Thomas Liehr / Anja Weise / Manuela Siekmeyer / Wieland Kiess
Published Online: 2016-01-29 | DOI: https://doi.org/10.1515/jpem-2015-0375

Abstract

We report on a 33-year-old patient with mosaic interstitial duplication on chromosome 14q11.2–14q22.1~22.3 with severe physical and mental retardation and multiple dysmorphisms. This patient was admitted to our pediatric hospital due to severe dehydration and malnutrition as a result of food refusal. It is an actual phenomenon that patients with severe inborn clinical problems nowadays survive due to progress and care of modern medicine. Nevertheless, transition from pediatric care to adult medicine seems to remain a challenging problem. We demonstrate the clinical course as well as clinical and genetic findings of this adult patient. Comparisons are made to previously reported cases with mosaic trisomy 14 involving a proximal interstitial duplication on the long arm of chromosome 14.

Keywords: dehydration; delayed development; mosaic; proximal trisomy 14q; short statue; transition to adult medicine

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About the article

Corresponding author: Dr. med. Bardo Wannenmacher, Department of Pediatric Cardiology, Heart Center Leipzig, Strümpellstr. 39, 04289 Leipzig, Germany, Phone: 0049-341-8651036, Fax: 0049-341-8651143, E-mail:


Received: 2015-09-16

Accepted: 2015-12-11

Published Online: 2016-01-29

Published in Print: 2016-05-01


Citation Information: Journal of Pediatric Endocrinology and Metabolism, Volume 29, Issue 5, Pages 611–616, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2015-0375.

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