Identical chromosome imbalance in two siblings born to a mother with a double reciprocal translocation.
We report the case of a woman who carried two reciprocal translocations. Her karyotype was 46,XX,t(3;12)(q12;q21)(4;17)(p14;p13). She had two children, a phenotypically normal daughter (karyotype (46,XX,t(3;12)(q12;q21)) and a son with partial 4p trisomy (karyotype 46,XY,t(3;12) (q12;q21),-17,+maternal der(17)). She was pregnant with a female fetus who had the same karyotype as her son. She also reported a history of two spontaneous abortions. This viable recurrent abnormality was due to the maternal (4;17) translocation with meiotic segregation type 2:2 adjacent 1. In this case of the two reciprocal translocations carried by the mother, one led to imbalances, whereas the other remained balanced in the viable offspring.
Yardin
C
C
Laboratoire de Cytogénétique, Faculté de Médecine, France.
Esclaire
F
F
Gilbert
B
B
Brosset
P
P
Hugon
J
J
Barthe
D
D
D000328:Adult; D002675:Child, Preschool; D002893:Chromosomes, Human, Pair 3; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D009035:Mothers; D011247:Pregnancy; D014178:Translocation, Genetic; D014314:Trisomy