[Autosomal translocation in gynaecology and obstetrics. 1. Reproduction behaviour and chance of chromosomal translocation carriers (author's transl)].
Nineteen chromosal translocations (1.8 per cent) were recorded from 1,055 chromosomal analyses, between 1972 and 1980. Three translocations were unbalanced. Their carriers were no longer suitable for reproduction for the severity of their chromosomally caused disorders. Another three translocation carriers declined to have children of their own by voluntary decision or due to functional disorders, although they had been carriers of balanced translocations. Thirteen translocation carriers insisted on having children. With 41 pregnancies reviewed, abortion was the result of 58.5 per cent, birth of still malformations of 12.2 per cent, birth of living malformations in 7.3 per cent, and birth of clinically intact children in 22 per cent (three cases of balanced translocation). There were five D/G translocations and three D/D translocations. All the other translocations were singular. Only one in seven pregnancies of D/G translocation carriers (4 +/- 0.8) resulted in the birth of a clinically intact child. One in three pregnancies of other translocation carriers (2.6 +/- 0.3) yielded the same result. Female translocation carriers were 1.6 times as frequent as males. Their rates of abortion and malformation were twice as high as those of other women. -Clinically intact children were born only to nine of 13 couples, notwithstanding prenatal diagnosis. Handicapped children were recorded from 23 per cent of the couples reviewed. The need is emphasised for psychological guidance of such couples which should be offered by the attending gynaecologist.
D000022:Abortion, Spontaneous / Q000209:etiology; D000328:Adult; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D025063:Chromosome Disorders; D002877:Chromosomes, Human / Q000032:analysis; D000013:Congenital Abnormalities / Q000209:etiology; D005260:Female; D005817:Genetic Counseling; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011248:Pregnancy Complications / Q000235:genetics; D012098:Reproduction; D014178:Translocation, Genetic
Autosomale Translokationen im gynäkologisch-geburtshilflichen Krankengut. 1. Reproduktionsverhalten und -chancen chromosomaler Translokationsträger.