Premium
Maternal translocation t(13:18)(q34:q11) and Edwar's syndrome in a fetus: 47, XY, t(13:18)(q34:q11) + 18
Author(s) -
Marković Stefanija,
Boué Joëlle,
Krstić Miomir,
Scar;ulović Vohn,
DOćCIć SLobodan,
ADćIć SLAVENKA
Publication year - 1984
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1984.tb01093.x
Subject(s) - chromosomal translocation , fetus , abortion , amniocentesis , medicine , gynecology , obstetrics , pregnancy , prenatal diagnosis , biology , genetics , gene
A 32‐year‐old woman, who presented with four spontaneous abortions, was found to have a balanced translocation: 46 , XX, t(13:18)(q34:qll). In the last pregnancy an amniocentesis was done. Abnormal constitution of the fetus had been detected: 47 , XY, t(13:18)(q34:ql 1) + 18 , and an abortion was induced. Examination of the fetal tissue confirmed the finding. The fetus showed the characteristics of Edwar's syndrome. Through the patient's pedigree it was discovered that balanced translocation appeared in three generations.