Jeziorowska A, Houck G E, Yao X L, Sklower-Brooks S L, Wisniewski K E, Jenkins E C, Wisniewski H M
Department of Genetics, Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314.
Clin Genet. 1992 Sep;42(3):124-8. doi: 10.1111/j.1399-0004.1992.tb03223.x.
We present a case previously described by Jenkins et al. (1983) as atypical Down syndrome (DS). The initial diagnosis was first made on the basis of phenotypic and cytogenetic data. This analysis was supported by studies of superoxide dismutase (SOD1) activity that maps to band 21q22.1. Results from phenotypic, chromosome banding and SOD1 studies suggested a karyotype of 46,XX,-12,+t(12pter to 12qter::21q21 to 21q22.?2). Using fluorescent in situ hybridization (FISH) for chromosome painting with DNA libraries derived from sorted human chromosomes to stain selectively the chromosomes No. 21 and No. 12, we demonstrate that the marker chromosome 12q+ has no chromosome 21 content but it is derived from chromosome 12.
我们报告一例先前被詹金斯等人（1983年）描述为非典型唐氏综合征（DS）的病例。最初的诊断是基于表型和细胞遗传学数据做出的。超氧化物歧化酶（SOD1）活性研究支持了这一分析，该酶基因定位于21q22.1带。表型、染色体显带和SOD1研究结果提示核型为46,XX,-12,+t(12pter至12qter::21q21至21q22.?2)。我们使用来自分选人类染色体的DNA文库进行染色体涂染的荧光原位杂交（FISH），以选择性地对21号和12号染色体进行染色，结果表明标记染色体12q+不含有21号染色体成分，而是来源于12号染色体。
