HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13).
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.
Hasegawa
T
T
Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
Hasegawa
Y
Y
Aso
T
T
Koto
S
S
Nagai
T
T
Tsuchiya
Y
Y
Kim
K C
KC
Ohashi
H
H
Wakui
K
K
Fukushima
Y
Y
D000328:Adult; D002118:Calcium / Q000097:blood; D002675:Child, Preschool; D002872:Chromosome Deletion; D002879:Chromosomes, Human, Pair 10; D003638:Deafness / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D007011:Hypoparathyroidism / Q000150:complications / Q000235:genetics*; D007668:Kidney / Q000002:abnormalities* / Q000473:pathology; D008297:Male; D013577:Syndrome; D014034:Toes / Q000002:abnormalities
D002118:Calcium