A case of de novo microdeletion with combination of 1q21.1 and 14q32.2q32.31

Background: Chromosomal microarray is considered as the first-line diagnostic genetic test in all individuals with intellectual disability (ID) and attention deficit disorders (ADD)(1). In recent years, using chromosomal microarrays routinely for this purpose has resulted in the identification of many new micro-deletion and micro-duplication regions connected with these clinical situations, including the 1q21.1 and 14q32.2q32.31 microdeletions. Case presentation: A five-year-old male patient came to our clinic because of intellectual disability, hyperactivity, growth retardation, and speaking difficulty. We determined strabismus on both eyes, and he was myopic. He had a high palate, little and sparse teeth. On his right hand, there was a simian line. Both undescended testes were brought down with surgery. Additionally, he had got an inward penis head. He had joint laxity in most of the joints. He had pes planus and talipes valgus. Therefore, we decided to make array-CGH analysis and the result came 1368.001 kb deletion on 1q21.1 between chr1: 146023922-147391923 nucleotides and 992.003 kb deletion on 14q32.2q32.31 between chr14: 100453009-101445012 nucleotides according to �Human Genome Build 37� (The result was confirmed by a FISH method performed to determine the particular deleted regions). Conclusion: Here we report the first case presented with intellectual disability, hyperactivity, growth retardation, speaking difficulty with other findings and has a combination of de novo 1q21.1 and 14q32.2q32.31 microdeletions. Although several research groups have reported similar results with similar regions separately, our study is the first of its kind revealing the effects of this combination to clinical outcome.