Prometaphase chromosomes in the tricho-rhino-phalangeal syndrome type I.
Prometaphase chromosome analysis was undertaken in a patient with familial tricho-rhino-phalangeal syndrome type I (TRPS-I). The patient had apparently normal chromosomes and produced counterevidence to part of Bühler's hypothesis. Thus, although some cases of typical TRPS-I may be derived from a deletion of 8q24.12, others might be caused by gene mutation or submicroscopic deletion involving the corresponding locus within the band 8q24.11----24.13.
Yamamoto
Y
Y
Department of Pediatrics, Jichi Medical School, Tochigi, Japan.
Oguro
N
N
Miyao
M
M
Yanagisawa
M
M
Ohsawa
T
T
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002648:Child; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002898:Chromosomes, Human, Pair 8; D003878:Dermatoglyphics; D005260:Female; D006801:Humans; D008677:Metaphase; D009154:Mutation; D009305:Nasopharynx / Q000002:abnormalities*; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome