Jenkins E C, Duncan C J, Wright C E, Giordano F M, Wilbur L, Wisniewski K, Sklower S L, French J H, Jones C, Brown W T
Clin Genet. 1983 Aug;24(2):97-102. doi: 10.1111/j.1399-0004.1983.tb02219.x.
A case of "atypical" Down Syndrome (DS), where the proposita did not exhibit all of the clinical features of DS and had de novo partial trisomy 21, was studied. Results from phenotypic, chromosome banding and superoxide dismutase (SOD) gene dosage studies suggest a karyotype of 46,XX,-12,+t(12pter to 12qter::21q21 to 21q22.?2). Additional studies of such atypical cases will provide more precise sublocalization for both gene and phenotypic mapping of the bands that are responsible for the DS phenotype.
对一例“非典型”唐氏综合征（DS）进行了研究，该先证者未表现出DS的所有临床特征，且存在新发的21号染色体部分三体。表型、染色体显带和超氧化物歧化酶（SOD）基因剂量研究结果提示核型为46,XX,-12,+t(12pter至12qter::21q21至21q22.?2)。对此类非典型病例的进一步研究将为负责DS表型的染色体带的基因和表型定位提供更精确的亚定位。
