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A Case of Complex Chromosome Translocation: 46, XY, t(4; 10; 13) (q31; q23; q12).
- Source :
-
Clinical laboratory [Clin Lab] 2019 Nov 01; Vol. 65 (11). - Publication Year :
- 2019
-
Abstract
- 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.<br />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.<br />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.
- Subjects :
- Abortion, Spontaneous physiopathology
Adult
Disorder of Sex Development, 46,XY diagnosis
Disorder of Sex Development, 46,XY physiopathology
Female
Genetic Predisposition to Disease
Humans
Infertility, Male diagnosis
Infertility, Male physiopathology
Karyotype
Male
Phenotype
Pregnancy
Abortion, Spontaneous genetics
Chromosomes, Human, Pair 10
Chromosomes, Human, Pair 13
Chromosomes, Human, Pair 4
Disorder of Sex Development, 46,XY genetics
Fertility genetics
Infertility, Male genetics
Translocation, Genetic
Subjects
Details
- Language :
- English
- ISSN :
- 1433-6510
- Volume :
- 65
- Issue :
- 11
- Database :
- MEDLINE
- Journal :
- Clinical laboratory
- Publication Type :
- Report
- Accession number :
- 31710435
- Full Text :
- https://doi.org/10.7754/Clin.Lab.2019.190434