Pierluigi M, Battaglia P, Perfumo C, Baroncini A, Bricarelli F D
Center of Human Genetics, Galliera Hospital, Genova, Italy.
Ann Genet. 1997;40(2):99-103.
In two prenatal cases, de novo nonmosaic bisatellited marker chromosomes were studied with the combined use of fluorescence in situ hybridization (FISH) with chromosome specific probes and cytogenetic heteromorphisms. The FISH studies showed that one of the small accessory chromosome could be a heterozygous 14/15 or 15/22 translocation involving the p arms of these chromosomes, the other showed only one hybridization spot with the classical satellite probe of chromosome 15. The analysis of heteromorphisms of the parental acrocentric chromosomes demonstrated that the two markers were Robertsonian translocations involving in the first case the p arms of the maternal 15 and 22 chromosomes and in the second case the p arms of the maternal 14 and 15 chromosomes.
在两例产前病例中，通过联合使用染色体特异性探针的荧光原位杂交（FISH）和细胞遗传学异态性研究了新生的非镶嵌双卫星标记染色体。FISH研究表明，其中一条小的额外染色体可能是涉及这些染色体短臂的杂合14/15或15/22易位，另一条仅与15号染色体的经典卫星探针有一个杂交点。对亲代近端着丝粒染色体异态性的分析表明，这两个标记是罗伯逊易位，在第一例中涉及母本15号和22号染色体的短臂，在第二例中涉及母本14号和15号染色体的短臂。
