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人类有多种染色体多态性,大部分改变涉及结构异染色质的数量和位置的变化。然而,最近报道的一种9号染色体的变异型,其短臂的近心区出现附加的C带阴性物质。本文报道的4个病例都为相似的16号染色体变异型,2例先证者于产前检出。据作者所知,这是16号染色体多态性的首次报道。病例报告及细胞遗传学研究:病例1为34岁初孕妇,因有神经管缺损的家族史作羊膜穿刺术。羊水细胞培养的细胞遗传学检查表明胎儿核型为16p+。表型正常的父亲16
Humans have multiple chromosomal polymorphisms, most of which involve changes in the number and location of structural heterochromatin. However, a recently reported variant of chromosome 9 showed an additional C-negative in the immediate vicinity of its short arm. Four cases reported in this paper are similar to chromosome 16 variant, two probands were detected in prenatal. To the authors’ knowledge, this is the first report of chromosome 16 polymorphism. Case Reports and Cytogenetics Study: Case 1 was a 34-year-old pregnant woman with amniocentesis due to a family history of neural tube defects. Cytogenetic examination of amniotic fluid cell culture showed that the fetal karyotype was 16p +. The phenotypically normal father 16