Japanese 17q12 Deletion Syndrome with Complex Clinical Manifestations

Intern Med. 2024;63(5):687-692. doi: 10.2169/internalmedicine.1660-23.ABSTRACT17q12 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.PMID:38432894 | DOI:10.2169/internalmedicine.1660-23

Source: Internal Medicine - March 3, 2024 Category: Internal Medicine Authors: Yutaka Hasegawa Yoshihiko Takahashi Kan Nagasawa Hirofumi Kinno Tomoyasu Oda Mari Hangai Yoshimi Odashima Yoko Suzuki Jun Shimizu Toshihiko Ando Isao Egawa Kouhei Hashizume Koji Nata Daisuke Yabe Yukio Horikawa Yasushi Ishigaki Source Type: research