Translocation t(13;14) in nine generations with a case of translocation homozygosity.
The Robertsonian translocation 5(13;14)(p11;q11) was studied in three families with probable common ancestry in Eastern Finland. In the largest family the translocation has segregated through at least nine generations. The same family also included a female who was homozygous for t(13;14). No clear-cut effect of the translocation on fertility could be demonstrated and only one case of trisomy 13 was recorded in the offspring of t(13;14) carriers. The results are discussed, with implication for human chromosomal evolution.
Eklund
A
A
Department of Medical Genetics, University of Helsinki, Finland.
Simola
K O
KO
Ryynänen
M
M
D000022:Abortion, Spontaneous / Q000209:etiology; D002882:Chromosomes, Human, Pair 13; D002883:Chromosomes, Human, Pair 14; D005260:Female; D005387:Finland; D006580:Genetic Carrier Screening; D006720:Homozygote; D006801:Humans; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D014178:Translocation, Genetic; D014314:Trisomy