Jornal de Síndromes Genéticas e Terapia Gênica
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An Adult Patient with Monosomy 18p, Growth Hormone Deficiency and Selective IgA Deficiency

Pinar Zengin Akkus, Arda Çetinkaya, Deniz Çagdas Ayvaz, Mehmet Alikasifoglu, Ayfer Alikasifoglu, Nurgün Kandemir, Ilhan Tezcan, Gülen Eda Utine and Koray Boduroglu

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.