Premium
Chorionic villus sampling—short‐term versus long‐term culture in a subtle 2; 18 translocation
Author(s) -
Smith A.,
Cohen M.,
den Dulk G.,
Guirguis A.
Publication year - 1989
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970090312
Subject(s) - chromosomal translocation , chorionic villus sampling , chorionic villi , karyotype , cytogenetics , term (time) , prenatal diagnosis , sampling (signal processing) , medicine , obstetrics , fetus , gynecology , pregnancy , andrology , biology , genetics , chromosome , physics , quantum mechanics , detector , gene , optics
Prenatal diagnosis on chorionic villous tissue was performed for a woman with the karyotype 46,XX,t(2;18)(q32;q12)—a subtle ‘difficult’ translocation. The case illustrates the necessity of good quality cytogenetics for accurate prenatal diagnosis. For chorionic villi this can be obtained only with long‐term culture.