Yamamoto Y, Oguro N, Miyao M, Yanagisawa M, Ohsawa T
Department of Pediatrics, Jichi Medical School, Tochigi, Japan.
Am J Med Genet. 1989 Apr;32(4):524-7. doi: 10.1002/ajmg.1320320420.
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.
对一名患有I型家族性毛发-鼻-指（趾）综合征（TRPS-I）的患者进行了前中期染色体分析。该患者的染色体表面上是正常的，并对布勒假说的一部分提出了反证。因此，尽管一些典型的TRPS-I病例可能源于8q24.12的缺失，但其他病例可能是由基因突变或涉及8q24.11----24.13带内相应位点的亚显微缺失引起的。
