|
KMID : 1189120100070010082
|
|
대한의학유전학회지
2010 Volume.7 No. 1 p.82 ~ p.86
|
|
|
Rarely Observed Jumping Translocation in Spontaneous Abortion
|
|
Lee Yeon-Woo
Yang Kwang-Moon
Kang Inn-Soo
Ryu Hyun-Mee
Park So-Yeon
Lee Bom-Yi
Choi Eun-Young
Park Ju-Yeon
Oh Ah-Rum
Lee Shin-Young
|
|
|
Abstract
|
|
|
|
Jumping translocations (JT) are chromosomal rearrangements involving one donor chromosome and several recipient chromosomes. While JTs are frequently observed as acquired chromosomal abnormalities in hematologic malignancies, constitutional JTs are only rarely reported. We report two cases of constitutional JT in chorionic villi derived from the products of conception. The karyotype of the first case was 46,XY,add(18)(p11.1)[61]/45,XY,der(18;21)(q10;q10)[32]/46,XY,-18,+mar[16]/46,XY,i(18)(q10)[9]/45,XY,der(15;18)(q10;q10)[6]/46,XY,+1,dic(1;18)(p22;p11.1)[2]/45,XY,der(13;18)(q10;q10)[1]/46,XY[32].The donor was a chromosome 18. The recipient chromosomes were chromosomes 1, 13, 15, 18 and 21. In the second case, the karyotype was 46,XY,der(22)t(9;22)(q12;q13)[22]/46,XY,der(22)t(1;22)(q21;q13) [13]/46,XY, add(22)(q13)[5]/46,XY[23]. The donor was a chromosome 22 and recipients were chromosomes 1 and 9. Both cases were de novo. The breakpoints of chromosomes were mostly in centromeric regions, pericentromeric regions, or telomeric regions. Normal cell lines were observed in both cases. This report supports the prior findings that the unstable nature of JT, resulting in chromosomal imbalance, most likely contributed to these early miscarriages.
|
|
|
KEYWORD
|
|
|
Juming translocation, Spontaneous abortion
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
 
|
|