与10号染色体短臂13区缺失相关的HDR综合征（甲状旁腺功能减退、感音神经性耳聋、肾发育异常）
HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13).
作者信息
Hasegawa T, Hasegawa Y, Aso T, Koto S, Nagai T, Tsuchiya Y, Kim K C, Ohashi H, Wakui K, Fukushima Y
机构信息
Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
出版信息
Am J Med Genet. 1997 Dec 31;73(4):416-8. doi: 10.1002/(sici)1096-8628(19971231)73:4<416::aid-ajmg9>3.0.co;2-l.
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.
甲状旁腺功能减退、感音神经性耳聋和肾发育异常的组合被认为是一种以常染色体显性方式遗传的新综合征；我们将这种病症命名为“HDR综合征”。我们描述了一名患有与新发del(10)(p13)相关的HDR综合征的日本女孩。染色体缺失表明，导致HDR综合征的推定基因位于10pter→p13区域。
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