A Case of Complex Chromosome Translocation: 46, XY, t(4; 10; 13) (q31; q23; q12).

BACKGROUND

Complex chromosome rearrangement (CCR) often results in patients with mental retardation, stunted growth, and multiple abnormalities. CCR carriers are at high risk of adverse pregnancy, and prenatal diagnosis should be made even in normal pregnancy. The incidence of spermatogenesis disorder is high in male CCR carriers, and the chromosome involved with CCR has an impact on the fertility of male carriers.

METHODS

We report a case of complex chromosome translocation: 46, XY, t(4; 10; 13) (q31; q23; q12). The lymphocytes in peripheral blood were cultured to examine the patient's karyotype.

RESULTS

The patient's karyotype was detected and identified as 46, XY, t(4;10;13) (4pter→4q31::13q12→13qter; 10pter→10q23::4q31→4qter; 13pter→13q12::10q23→10qter). Complex chromosome translocations occurred on chromosomes 4, 10, and 13. When combined with normal gamete, one or two derived chromosomes may be obtained in the offspring, resulting in the increase or decrease of the translocation segments of a chromosome (part of trisomy or part of monomers), thus resulting in fetal abortion, stillbirth or deformed children, etc.

Conclusions

Fertility and pregnancy outcome cannot be completely determined according to the complexity of karyotype. For patients with such chromosomal abnormalities, prenatal diagnosis should be strictly carried out to prevent the birth of children with chromosomal diseases if they want to have healthy children.