Portal de Periódicos da CAPES

HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13)

1997; Wiley; Volume: 73; Issue: 4 Linguagem: Inglês

10.1002/(sici)1096-8628(19971231)73

1096-8628

Tomonobu Hasegawa, Yukihiro Hasegawa, T. Aso, Shinobu Koto, Toshiro Nagai, Yutaka Tsuchiya, Kyoung Chang Kim, Hirofumi Ohashi, Keiko Wakui, Yoshimitsu Fukushima,

Congenital heart defects research

A combination of hypoparathyroidism, sensorineural deafness, and renal dysplasia has been considered to be a new syndrome inherited in an autosomal dominant fashion; we name the condition "HDR syndrome." We describe a Japanese girl who has HDR syndrome associated with de novo del(10)(p13). The chromosome deletion suggests that the putative gene(s) responsible for HDR syndrome is located at a 10pter→p13 region. Am. J. Med. Genet. 73:416–418, 1997. © 1997 Wiley-Liss, Inc.