Thangavelu M, Pergament E, Espinosa R, Bohlander S K
Department of Obstetrics and Gynecology, Northwestern University Medical School, Chicago, IL 60611.
Prenat Diagn. 1994 Jul;14(7):583-8. doi: 10.1002/pd.1970140712.
We characterized by microdissection and fluorescence in situ hybridization (FISH) two marker chromosomes: (1) a de novo, acrocentric marker chromosome detected in 88 per cent of the amniotic fluid cells of one of two physically and developmentally normal twins; and (2) a metacentric marker chromosome present in a phenotypically normal female. Analysis of FISH probes developed from the marker chromosomes indicated that the marker chromosomes in cases 1 and 2 were del(14)(q11) and a derivative chromosome from a Robertsonian translocation, respectively. Microdissection in combination with FISH may prove to be a valuable technique in determining the chromosomal origin of de novo marker chromosomes and unbalanced structural rearrangements detected during prenatal diagnosis.
我们通过显微切割和荧光原位杂交（FISH）对两条标记染色体进行了特征分析：（1）在一对身体和发育均正常的双胞胎中，其中一个的88%羊水细胞中检测到一条新生的近端着丝粒标记染色体；（2）一条中着丝粒标记染色体存在于一名表型正常的女性体内。对从标记染色体上开发的FISH探针进行分析表明，病例1和病例2中的标记染色体分别为del(14)(q11)和一条罗伯逊易位衍生染色体。显微切割与FISH相结合可能被证明是一种在产前诊断中确定新生标记染色体和不平衡结构重排的染色体起源的有价值技术。
