Article
Maternal isodisomy for 14q21-q24 in a man with diabetes mellitus.
American journal of medical genetics - 22 Jul 2002
Kayashima Tomohiko, Katahira Masahito, Harada Naoki, Miwa Nobutomo, Ohta Tohru, Yoshiura Koh-Ichiro, Matsumoto Naomichi, Nakane Yoshibumi, Nakamura Yusuke, Kajii Tadashi, Niikawa Norio, Kishino Tatsuya
Abstract excerpt
We report a 20-year-old man with maternal uniparental disomy for chromosome 14 (UPD14) and maturity-onset diabetes mellitus (DM). He had pre- and postnatal growth retardation, developed DM at age 20 years without any autoimmune antibodies, and had a mosaic 45,XY,der(14;14)(q10;q10)[129]/46,XY,+14,der(14;14)(q10;q10)[1] karyotype. Allelotyping using microsatellite markers covering the entire 14q indicated...
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