Submicroscopic deletion of chromosome region 16p13.3 in a Japanese patient with Rubinstein-Taybi syndrome.
In a series of 25 Japanese patients with Rubinstein-Taybi syndrome, we screened, by high-resolution GTG banding and fluorescence in situ hybridization of a cosmid probe (RT1, D16S237), for microdeletions associated with this syndrome. In one patient, a microdeletion was demonstrated by in situ hybridization, but none were detected by high-resolution banding.
Masuno
M
M
Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
Imaizumi
K
K
Kurosawa
K
K
Makita
Y
Y
Petrij
F
F
Dauwerse
H G
HG
Breuning
M H
MH
Kuroki
Y
Y
D000293:Adolescent; D000328:Adult; D002610:Cheek; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002885:Chromosomes, Human, Pair 16; D003582:Cytogenetics / Q000379:methods; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007564:Japan / Q000453:epidemiology; D008297:Male; D009061:Mouth Mucosa; D011247:Pregnancy; D012415:Rubinstein-Taybi Syndrome / Q000453:epidemiology / Q000235:genetics*