Pettenati M J, Hayworth R, Cox K, Rao P N
Department of Pediatrics, Bowman Gray School of Medicine of Wake Forest University, Winston-Salem, North Carolina 27157.
Clin Genet. 1994 Jan;45(1):17-20. doi: 10.1111/j.1399-0004.1994.tb03983.x.
Fluorescence in situ hybridization (FISH) with a chromosome-region-specific DNA probe was used prospectively on uncultured amniocyte interphase cells to detect an unbalanced chromosome abnormality that resulted in cri du chat or 5p- syndrome. Confirmation was performed by routine cytogenetics.
使用针对染色体区域特异性DNA探针的荧光原位杂交(FISH)技术,对未经培养的羊水细胞间期细胞进行前瞻性检测,以发现导致猫叫综合征或5p-综合征的染色体不平衡异常。通过常规细胞遗传学方法进行确认。