AI Article Synopsis
- - 17q12 deletion syndrome is a rare genetic condition caused by a specific deletion on chromosome 17, leading to varied health issues in individuals.
- - A 35-year-old Japanese man was studied, revealing a 1.46 Mb deletion causing multiple health problems, including maturity-onset diabetes, kidney and liver issues, and facial dysmorphic characteristics.
- - This case adds to our understanding of the diverse symptoms associated with 17q12 deletion syndrome, highlighting its clinical implications.
Article Abstract
17q12 deletion syndrome is a rare chromosomal anomaly with variable phenotypes, caused by the heterozygous deletion of chromosome 17q12. We herein report a 35-year-old Japanese patient with chromosomal 17q12 deletion syndrome identified by de novo deletion of the 1.46 Mb segment at the 17q12 band by genetic analyses. He exhibited a wide range of phenotypes, such as maturity-onset diabetes of the young (MODY) type 5, structural or functional abnormalities of the kidney, liver, and pancreas; facial dysmorphic features, electrolyte disorders; keratoconus, and acquired perforating dermatosis. This case report provides valuable resources concerning the clinical spectrum of rare 17q12 deletion syndrome.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10982014 | PMC |
| http://dx.doi.org/10.2169/internalmedicine.1660-23 | DOI Listing |
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