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

✍ Scribed by Fujimoto, Shinji; Yokochi, Kenji; Morikawa, Haruko; Nakano, Masao; Shibata, Hideo; Togari, Hajime; Wada, Yoshiro

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 15 KB
Volume: 86
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19991029)86:5<427::aid-ajmg6>3.0.co;2-i

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✦ Synopsis

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. Am. J. Med. Genet. 86: 427-429, 1999.

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