Wolff D J, Schwartz M F, Cohen M M, Schwartz S
Department of Obstetrics and Gynecology, University of Maryland School of Medicine, Baltimore.
Am J Med Genet. 1993 Jun 15;46(5):520-3. doi: 10.1002/ajmg.1320460512.
We describe the first de novo inverted duplication of 18q. Due to the difficulty of identifying de novo chromosome abnormalities based solely on cytologic studies, precise definition of the 18q duplication was attempted by integrating cytogenetic and clinical findings with biochemical and molecular dosage studies. The combined results demonstrated that the proposita had a duplication of 18q21-->q22 with a karyotype of 46,XX,-18, + inv dup(18) (pter-->q12.1::q22-->q21::q12.1-->qter). The duplication of this specific chromosome region does not result in the typical 18 phenotype, supporting the hypothesis that various loci on chromosome 18 may interact to produce the manifestations of this syndrome.
我们描述了首例18号染色体的新发倒位重复。由于仅基于细胞学研究来识别新发染色体异常存在困难，因此我们尝试通过将细胞遗传学和临床发现与生化及分子剂量研究相结合，来精确界定18号染色体重复。综合结果表明，该患者存在18q21→q22重复，核型为46,XX,-18, + inv dup(18) (pter→q12.1::q22→q21::q12.1→qter)。这一特定染色体区域的重复并未导致典型的18号染色体表型，支持了18号染色体上的多个位点可能相互作用以产生该综合征表现的假说。
