A case with balanced chromosome rearrangement involving chromosomes 9, 14, and 13 in a woman with recurrent abortion.
A phenotypically normal couple was referred for cytogenetic evaluation due to three consecutive first-trimester spontaneous abortions. Chromosomal analysis from peripheral blood was performed according to standard cytogenetic methods using G-banding technique. The husband's karyotype was normal. The wife's karyotype showed a balanced complex chromosome rearrangement (CCR) involving chromosomes 9, 14, and 13. There were three breakpoints: 9p21.2, 14q21, and 13q12.2. The karyotype was designated as 46, XX, t (9;14;13)(p21.2;q21;q12.2). Fluorescence in situ hybridization (FISH) analysis with chromosome-specific libraries of chromosomes 9, 14, and 13 was performed to confirm this rare chromosome rearrangement. The result of FISH coincided with that obtained by standard cytogenetic techniques.
Kim
S K
SK
Department of Obstetrics and Gynecology, Yonsei University College of Medicine, Seoul, Korea. skkim@yumc.yonsei.ac.kr
Kim
H J
HJ
Yang
Y H
YH
Kim
I K
IK
Bai
S W
SW
Kim
J Y
JY
Park
K H
KH
Cho
D J
DJ
Song
C H
CH
D000026:Abortion, Habitual / Q000235:genetics*; D000328:Adult; D002869:Chromosome Aberrations; D002882:Chromosomes, Human, Pair 13; D002883:Chromosomes, Human, Pair 14; D002899:Chromosomes, Human, Pair 9; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D011247:Pregnancy