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

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

Research output: Contribution to journalArticlepeer-review

78 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)416-418
Number of pages3
JournalAmerican journal of medical genetics
Volume73
Issue number4
DOIs
Publication statusPublished - 1997 Dec 31

Keywords

  • Del(10)(p13)
  • HDR syndrome
  • Hypoparathyroidism
  • Renal dysplasia
  • Sensorineural deafness

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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