Maternal translocation t(13:18)(q34:q11) and Edwar's syndrome in a fetus: 47, XY, t(13:18)(q34:q11) + 18

Abstract

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:qll) + 18, and an abortion was induced. Examination of the fetal tissue confirmed the finding. The fetus showed the characteristics of Edward's syndrome. Through the patient's pedigree it was discovered that balanced translocation appeared in three generations.

Alternate, adjacent 2 and 3:1 meiotic segregation products from a balanced t(13;18) (q12;q11) carrier

“…Kajii et al (1974) reported a case of translocation 46,XY, in which three different segregants were detected in three spontaneous abortionsadjacent I, 3: 1 tertiary trisomy and 3: 1 interchange trisomy. Markovic et al (1984) recorded a t(13;18) producing trisomy 18 due to 3 : 1 segregation. There were no live-borns in these cases and no adjacent 2 segregations.…”