alexa An Adult Patient with Monosomy 18p, Growth Hormone Deficiency and Selective IgA Deficiency
ISSN: 2157-7412

Journal of Genetic Syndromes & Gene Therapy
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Case Report

An Adult Patient with Monosomy 18p, Growth Hormone Deficiency and Selective IgA Deficiency

Pinar Zengin Akkus1*, Arda Çetinkaya2, Deniz Çagdas Ayvaz3, Mehmet Alikasifoglu2, Ayfer Alikasifoglu4, Nurgün Kandemir4, Ilhan Tezcan3, Gülen Eda Utine1 and Koray Boduroglu1

1Hacettepe University, Ihsan Dogramaci Children’s Hospital, Department of Pediatrics, Division of Pediatric Genetics, Ankara, Turkey

2Hacettepe University, Ihsan Dogramaci Children’s Hospital, Department of Medical Genetics, Ankara, Turkey

3Hacettepe University, Ihsan Dogramaci Children’s Hospital, Department of Pediatrics, Division of Pediatric Immunology, Ankara, Turkey

4Hacettepe University, Ihsan Dogramaci Children’s Hospital, Department of Pediatrics, Division of Pediatric Endocrinology, Ankara, Turkey

*Corresponding Author:
Pinar Zengin Akkus, MD
Hacettepe University Faculty of Medicine
Department of Pediatrics
Department of Pediatric Genetics Ankara, Turkey
Tel: +90 312 311 55 22
Fax: +90 312 311 55 22
E-mail: [email protected]

Received date: November 23, 2015; Accepted date:February 15, 2016; Published date: February 22, 2016

Citation: Akkus PZ, Çetinkaya A, Ayvaz DÇ, Alikasifoglu M, Alikasifoglu A, et al. (2016) An Adult Patient with Monosomy 18p, Growth Hormone Deficiency and Selective IgA Deficiency. J Genet Syndr Gene Ther 7:287. doi:10.4172/2157-7412.1000287

Copyright: © 2016 Akkus PZ, et al. 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 author and source are credited.

Abstract

Monosomy 18p is a relatively frequent deletion syndrome with an estimated frequency of one in 50,000 liveborns. Most frequent findings consist of mild to moderate growth deficiency, intellectual disability, microcephaly, and facial dysmorphic features including ptosis, epicanthic folds, low nasal bridge, hypertelorism and large protruding ears. Anomalies of other systems may accompany. A 31-year-old male patient with dysmorphic facial features, congenital hypothyroidism, growth hormone deficiency and intellectual disability was diagnosed with monosomy 18p. The patient who also suffered from recurrent aphthous stomatitis and otitis during childhood and selective IgA deficiency was also diagnosed. Monosomy 18p in this patient was further analyzed with SNP microarrays. The 18p deletion caused monosomy of a segment larger than 18 Mb, which consisted many OMIM genes. Deleted genes in this region are known to have a diverse array of functions in various cellular processes. Estimating the possible pathogenic roles of these gene deletions over cellular functions may be difficult for today, however, precise delineation of molecular findings would lead to a better understanding of disease pathogenesis in future.

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