Somatic cell and sperm cell cytogenetics in a patient with t(14; 21).
Approximately 15%-20% of clinically recognizable pregnancies end in spontaneous abortion. About half of the spontaneous abortions in the early stage of the pregnancy are due to chromosomal abnormalities. Using GTG chromosome banding and dual-color fluorescence in situ hybridization (FISH) techniques, we determined the cytogenetic aberration in the husband of a couple with spontaneous recurrent abortions. Karyotype analysis showed 46, XX in the wife and 45, XY, -14, -21, +t(14; 21) in the husband. We studied the mechanism of formation of the abnormal chromosome with Robertsonian translocation between chromosomes 14 and 21 by FISH and flow cytometric sorting in the sperm cells. The result showed that 71% of the gametes were balanced and the remaining 29% were not. As a result, the couple was given genetic counseling.
Tang
Yan-Ping
YP
Center for Reproductive Medicine, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Liu
Xiu-Sheng
XS
Liu
Yuan
Y
Yang
Zhen-Rong
ZR
Chen
Yan
Y
Xiong
Cheng-Liang
CL
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002883:Chromosomes, Human, Pair 14; D002884:Chromosomes, Human, Pair 15; D002891:Chromosomes, Human, Pair 21; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D020732:Cytogenetic Analysis; D005260:Female; D005434:Flow Cytometry; D005817:Genetic Counseling; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D013094:Spermatozoa / Q000473:pathology*; D014178:Translocation, Genetic