Smith A, Field B, Learoyd B M
Oliver Latham Laboratory, Department of Health, North Ryde, N.S.W., Australia.
Am J Med Genet. 1989 Nov;34(3):338-9. doi: 10.1002/ajmg.1320340309.
Here we report on a woman with non-mosaic trisomy 18, who is now 21 years old. She has the characteristic face of older trisomy 18 survivors, marked kyphoscoliosis, spastic quadriplegia with contractures, and profound mental retardation. She has pyorrhea with loss of three canine teeth. At 20.5 years, she had her first menstrual cycle with development of secondary sexual characteristics.
我们在此报告一名患有非嵌合型18三体综合征的女性,她现已21岁。她具有年长的18三体综合征幸存者的典型面容,严重脊柱后侧凸,伴有挛缩的痉挛性四肢瘫痪,以及严重智力障碍。她患有牙周炎,三颗犬齿脱落。在20.5岁时,她出现了第一次月经周期,并伴有第二性征发育。