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. In recent years, the use of chromosomal microarrays routinely for this purpose has resulted in the identification of many n...
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| Format: | Article |
| Language: | English |
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Discover STM Publishing Ltd
2020-12-01
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| Series: | Journal of Biochemical and Clinical Genetics |
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| Online Access: | http://www.ejmanager.com/fulltextpdf.php?mno=116442 |
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| author | Hale Onder Yilmaz Kadri Karaer Orkun Yilmaz |
| author_facet | Hale Onder Yilmaz Kadri Karaer Orkun Yilmaz |
| author_sort | Hale Onder Yilmaz |
| collection | DOAJ |
| description | Background: Chromosomal microarray is considered as the first-line diagnostic genetic test in all individuals with intellectual disability (ID) and attention-deficit disorders. In recent years, the use of chromosomal microarrays routinely for this purpose has resulted in the identification of many new microdeletion and microduplication regions connected with these clinical situations, including the 1q21.1 and 14q32.2q32.31 microdeletions.
Case Presentation: A 5-year-old male patient came to the clinic because of ID, hyperactivity, growth retardation, and speaking difficulty. We determined strabismus on both the eyes, and he was myopic. He had a high palate, little, and sparse teeth. On the right hand, there was a simian line. Both undescended testes were brought down with surgery. In addition, 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-comparative genomic hybridization analysis and the result came 1368.001 kb deletion on 1q21.1 between chr1: 146023922 and 147391923 nucleotides and 992.003 kb deletion on 14q32.2q32.31 between chr14: 100453009 and 101445012 nucleotides according to Human Genome Build 37 (The result was confirmed by a fluorescent in situ hybridization method performed to determine the particular deleted regions).
Conclusion: Here, we report the first case presented with ID, hyperactivity, growth retardation, and 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, this study is the first of its kind revealing the effects of this combination to clinical outcome. [JBCGenetics 2020; 3(2.000): 104-107] |
| first_indexed | 2024-03-13T08:41:04Z |
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| language | English |
| last_indexed | 2024-03-13T08:41:04Z |
| publishDate | 2020-12-01 |
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| series | Journal of Biochemical and Clinical Genetics |
| spelling | doaj.art-711818e235e240ad80219cdd1db842ab2023-05-30T11:47:11ZengDiscover STM Publishing LtdJournal of Biochemical and Clinical Genetics1658-807X2020-12-013210410710.24911/JBCGenetics/183-1592502000116442A case of de novo microdeletion with combination of 1q21.1 and 14q32.2q32.31Hale Onder Yilmaz0Kadri Karaer1Orkun Yilmaz2Department of Medical Genetics, Necip Fazıl City Hospital, Kahramanmaras, Turkey Department of Medical Genetics, Gaziantep University, Gaziantep, Turkey Department of Orthopedics and Traumatology, Necip Fazil City Hospital, Kahramanmaras, TurkeyBackground: Chromosomal microarray is considered as the first-line diagnostic genetic test in all individuals with intellectual disability (ID) and attention-deficit disorders. In recent years, the use of chromosomal microarrays routinely for this purpose has resulted in the identification of many new microdeletion and microduplication regions connected with these clinical situations, including the 1q21.1 and 14q32.2q32.31 microdeletions. Case Presentation: A 5-year-old male patient came to the clinic because of ID, hyperactivity, growth retardation, and speaking difficulty. We determined strabismus on both the eyes, and he was myopic. He had a high palate, little, and sparse teeth. On the right hand, there was a simian line. Both undescended testes were brought down with surgery. In addition, 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-comparative genomic hybridization analysis and the result came 1368.001 kb deletion on 1q21.1 between chr1: 146023922 and 147391923 nucleotides and 992.003 kb deletion on 14q32.2q32.31 between chr14: 100453009 and 101445012 nucleotides according to Human Genome Build 37 (The result was confirmed by a fluorescent in situ hybridization method performed to determine the particular deleted regions). Conclusion: Here, we report the first case presented with ID, hyperactivity, growth retardation, and 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, this study is the first of its kind revealing the effects of this combination to clinical outcome. [JBCGenetics 2020; 3(2.000): 104-107]http://www.ejmanager.com/fulltextpdf.php?mno=1164421q21.1 microdeletion14q32.2q32.31 microdeletiongrowth retardation |
| spellingShingle | Hale Onder Yilmaz Kadri Karaer Orkun Yilmaz A case of de novo microdeletion with combination of 1q21.1 and 14q32.2q32.31 Journal of Biochemical and Clinical Genetics 1q21.1 microdeletion 14q32.2q32.31 microdeletion growth retardation |
| title | A case of de novo microdeletion with combination of 1q21.1 and 14q32.2q32.31 |
| title_full | A case of de novo microdeletion with combination of 1q21.1 and 14q32.2q32.31 |
| title_fullStr | A case of de novo microdeletion with combination of 1q21.1 and 14q32.2q32.31 |
| title_full_unstemmed | A case of de novo microdeletion with combination of 1q21.1 and 14q32.2q32.31 |
| title_short | A case of de novo microdeletion with combination of 1q21.1 and 14q32.2q32.31 |
| title_sort | case of de novo microdeletion with combination of 1q21 1 and 14q32 2q32 31 |
| topic | 1q21.1 microdeletion 14q32.2q32.31 microdeletion growth retardation |
| url | http://www.ejmanager.com/fulltextpdf.php?mno=116442 |
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