Features of Two Cases with 18q Deletion Syndrome

The 18q Deletion syndrome is seen in 1 out of 10 000 live births. The main features of the syndrome are short stature, hearing loss, hypotonia, mental retardation, endocrine disorders and autoimmunity. Here, we present 2 patients with this syndrome admitted to our clinic who were found to have insul...

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Autores principales: Özsu, Elif, Yeşiltepe Mutlu, Gül, Büte Yüksel, Ayşegül, Hatun, Şükrü
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3986740/
https://www.ncbi.nlm.nih.gov/pubmed/24637311
http://dx.doi.org/10.4274/Jcrpe.1183
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author Özsu, Elif
Yeşiltepe Mutlu, Gül
Büte Yüksel, Ayşegül
Hatun, Şükrü
author_facet Özsu, Elif
Yeşiltepe Mutlu, Gül
Büte Yüksel, Ayşegül
Hatun, Şükrü
author_sort Özsu, Elif
collection PubMed
description The 18q Deletion syndrome is seen in 1 out of 10 000 live births. The main features of the syndrome are short stature, hearing loss, hypotonia, mental retardation, endocrine disorders and autoimmunity. Here, we present 2 patients with this syndrome admitted to our clinic who were found to have insulin resistance in addition to mental retardation, short stature, autoimmune thyroiditis and hearing loss. The need to perform a karyogram analysis in cases presenting with these features is emphasized.
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spelling pubmed-39867402014-04-30 Features of Two Cases with 18q Deletion Syndrome Özsu, Elif Yeşiltepe Mutlu, Gül Büte Yüksel, Ayşegül Hatun, Şükrü J Clin Res Pediatr Endocrinol Case Report The 18q Deletion syndrome is seen in 1 out of 10 000 live births. The main features of the syndrome are short stature, hearing loss, hypotonia, mental retardation, endocrine disorders and autoimmunity. Here, we present 2 patients with this syndrome admitted to our clinic who were found to have insulin resistance in addition to mental retardation, short stature, autoimmune thyroiditis and hearing loss. The need to perform a karyogram analysis in cases presenting with these features is emphasized. Galenos Publishing 2014-03 2014-03-05 /pmc/articles/PMC3986740/ /pubmed/24637311 http://dx.doi.org/10.4274/Jcrpe.1183 Text en © Journal of Clinical Research in Pediatric Endocrinology, Published by Galenos Publishing. http://creativecommons.org/licenses/by/2.5/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Özsu, Elif
Yeşiltepe Mutlu, Gül
Büte Yüksel, Ayşegül
Hatun, Şükrü
Features of Two Cases with 18q Deletion Syndrome
title Features of Two Cases with 18q Deletion Syndrome
title_full Features of Two Cases with 18q Deletion Syndrome
title_fullStr Features of Two Cases with 18q Deletion Syndrome
title_full_unstemmed Features of Two Cases with 18q Deletion Syndrome
title_short Features of Two Cases with 18q Deletion Syndrome
title_sort features of two cases with 18q deletion syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3986740/
https://www.ncbi.nlm.nih.gov/pubmed/24637311
http://dx.doi.org/10.4274/Jcrpe.1183
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