Recurrent cerebral infarctions and del(10)(p14p15.1) de novo in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome.
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.
Fujimoto
S
S
Department of Pediatrics, Nagoya City University Medical School, Nagoya, Japan. sfujimot@med.nagoya-cu.ac.jp
Yokochi
K
K
Morikawa
H
H
Nakano
M
M
Shibata
H
H
Togari
H
H
Wada
Y
Y
D000328:Adult; D002544:Cerebral Infarction / Q000235:genetics*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10; D003638:Deafness / Q000235:genetics*; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006429:Hemiplegia / Q000209:etiology; D006801:Humans; D007011:Hypoparathyroidism / Q000235:genetics*; D007223:Infant; D007621:Karyotyping; D007668:Kidney / Q000002:abnormalities* / Q000473:pathology; D008214:Lymphocytes / Q000473:pathology; D008297:Male; D012008:Recurrence; D013577:Syndrome