Lafer C Z, Neu R L
Department of Pediatrics, Division of Genetics, Nemours Children's Clinic, Jacksonville, FL 32247.
Am J Med Genet. 1988 Oct;31(2):375-8. doi: 10.1002/ajmg.1320310215.
We report on an 22-month-old white girl with tetraploidy who is growing well, but who is extremely delayed in psychomotor development. When counseling parents it is important to realize that, although quite rare, tetraploid individuals can be born alive and live for at least 22 months. The implications are also relevant to prenatal diagnosis.
我们报告了一名22个月大的患有四倍体的白人女孩,她生长发育良好,但精神运动发育严重迟缓。在为父母提供咨询时,重要的是要认识到,尽管四倍体个体非常罕见,但仍可存活并至少活到22个月。这一情况对产前诊断也具有重要意义。