An Adult Patient with Monosomy 18p, Growth Hormone Deficiency and Selective IgA DeficiencyPinar Zengin Akkus1*, Arda Çetinkaya2, Deniz Çagdas Ayvaz3, Mehmet Alikasifoglu2, Ayfer Alikasifoglu4, Nurgün Kandemir4, Ilhan Tezcan3, Gülen Eda Utine1 and Koray Boduroglu1
- *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.
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.