タナカ　リョウジロウ   Ryojiro Tanaka   田中　亮二郎    所属   川崎医科大学  医学部 臨床医学　小児科学    職種   特任教授
論文種別	症例報告
言語種別	英語
査読の有無	査読あり
表題	16q12 microdeletion syndrome in two Japanese boys.
掲載誌名	正式名：Pediatrics international : official journal of the Japan Pediatric Society 略　 称：Pediatr Int ISSNコード：1442200X/13288067
掲載区分	国外
巻・号・頁	56(5),pp.e75-8
著者・共著者	Naoya Morisada, Takashi Sekine, Shingo Ishimori, Masahiko Tsuda, Masao Adachi, Kandai Nozu, Koichi Nakanishi, Ryojiro Tanaka, Kazumoto Iijima
発行年月	2014/10
概要	Microdeletion of 16q12 is a rare chromosomal abnormality. We present the cases of two Japanese patients with developmental and renal symptoms of differing clinical severity. Both patients had 16q12 interstitial microdeletions that included the entire SALL1 gene. Patient 1 was a 15-year-old Japanese boy clinically diagnosed with branchio-oto-renal syndrome with mild developmental delay, but with no imperforate anus or polydactyly. Array comparative genome hybridization (aCGH) indicated a 5.2 Mb deletion in 16q12, which included SALL1. Patient 2 was a 13-year-old Japanese boy diagnosed with Townes-Brocks syndrome and severe developmental delay, epilepsy, and renal insufficiency requiring renal replacement therapy. Fluorescence in situ hybridization indicated deletion of the entire SALL1 gene. Subsequent aCGH showed a 6 Mb deletion in 16q12q13, which included SALL1. Precise analysis of the present two cases will give us some clues to elucidate the pathogenic mechanisms of 16q12 microdeletion syndrome.
DOI	10.1111/ped.12426
PMID	25336016