1.Identification of origins of marker chromosomes using fluorescence in situ hybridization.
Qiong WU ; Yu-lin ZHOU ; Hui KONG ; Huan ZENG ; Hui-nan WU ; Yan-yan SHENG ; Chao-yi YANG ; Yun-sheng GE ; Mei-jiao CAI ; Ting-ting HUANG ; Jia-yan CHEN ; Xia-olu CHEN ; Dong-xing ZHOU ; Xin-gli HUANG
Chinese Journal of Medical Genetics 2013;30(4):415-419
OBJECTIVETo assess the value of fluorescence in situ hybridization (FISH) and bacterial artificial chromosome FISH (BAC-FISH) for the diagnosis for patients with marker chromosomes.
METHODSSixteen patients with marker chromosomes were analyzed with technologies including GTG-banding, Q-banding, multiplex FISH and BAC-FISH.
RESULTSThe marker chromosomes in the 16 patients were verified as der(Y) (2 cases), psu dic(Y) (1 case), psu dic(15) (1 case), dic(15) (1 case), del(Y) (1 case), r(X) (5 cases), i(14 or 22) (2 cases), i(18) (1 case).
CONCLUSIONFISH and BAC-FISH can both verify the origin of marker chromosomes and provide accurate information for the diagnosis and treatment of patients.
Adolescent ; Adult ; Child ; Chromosome Aberrations ; Female ; Genetic Diseases, Inborn ; diagnosis ; genetics ; Genetic Markers ; genetics ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Male ; Young Adult
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