Recurrent cerebral infarctions and del(10)(p14p15.1) de novo in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome

Am J Med Genet. 1999 Oct 29;86(5):427-9. doi: 10.1002/(sici)1096-8628(19991029)86:5<427::aid-ajmg6>3.0.co;2-i.

Abstract

We report on a Japanese boy with HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) and recurrent cerebral infarctions in the basal ganglia. The patient experienced cerebral infarctions four times between age 7 months and age 20 months. Chromosome analysis of the patient demonstrated a 46,XY, del(10)(p14p15.1) de novo. This suggests that the putative gene responsible for HDR syndrome is located at 10p14-p15.1.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cerebral Infarction / genetics*
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 10*
  • Deafness / genetics*
  • Female
  • Hearing Loss, Sensorineural / genetics*
  • Hemiplegia / etiology
  • Humans
  • Hypoparathyroidism / genetics*
  • Infant
  • Karyotyping
  • Kidney / abnormalities*
  • Kidney / pathology
  • Lymphocytes / pathology
  • Male
  • Recurrence
  • Syndrome