Nishi Y, Yoshimura O, Ohama K, Usui T
Am J Med Genet. 1982 May;12(1):109-14. doi: 10.1002/ajmg.1320120115.
A ring chromosome 6 was identified in an apparently healthy girl with short stature and microcephaly. Of 100 peripheral lymphocyte metaphases analyzed, chromosome 6 was replaced in 73% by a monocentric ring chromosome, in 10% by a dicentric, in 1% by a tricentric, and 3% by two rings. Thirteen other cells were 45,XX,-6, which may represent 46,XX,r(6)/45,XX,-6 mosaicism. The breakpoints were located on bands p24 or p25 and q26 or q27. Eight other patients with a ring chromosome 6 have been reported. The most characteristic findings in subjects with a ring chromosome 6 are mental retardation and eye and ear abnormalities, none of which were present in our patient.
在一名身材矮小且小头畸形但外表健康的女孩中发现了一条6号环状染色体。在分析的100个外周淋巴细胞中期相中，73%的细胞中6号染色体被单中心环状染色体取代，10%被双中心环状染色体取代，1%被三中心环状染色体取代，3%被两条环状染色体取代。另外13个细胞为45,XX,-6，这可能代表46,XX,r(6)/45,XX,-6嵌合体。断点位于p24或p25以及q26或q27带。另外已有8例6号环状染色体患者的报道。6号环状染色体患者最典型的表现是智力发育迟缓以及眼耳异常，但我们的患者均无这些表现。
