ABSTRACT
In this study, in order to promote chromosome abnormality carriers eugenics, three patients with adverse pregnancy histories were examined by cytogenetics and their pedigrees further analyzed. In this retrospective study, approximately anticoagulant peripheral venous blood from the patients was collected for peripheral blood cell culture and chromosome analysis. Karyotypes were analyzed in the BEIONMED karyotype analysis system. The karyotypes of the three probands were all whole-arm translocations (WATs): case 1 (DatabaseNo.3591): 46, XY, t (7; 13) (p10; p10) dn, two years of marriage in which the spouse did not have pregnancy, with azoospermia; case 2 (Database No.3809): 46, XY, t(12; 17) (p10; q10), three spontaneous abortions within three years of marriage; case 3 (Database No.4914) 46, XX, t(2;6) (p10; q10) mat, 21ps+pat, a year of marriage without pregnancy. When the parents are carriers of WAT, the family should be considered to have a high reproductive risk, increasing the risk of producing offspring with chromosomal abnormalities. Three kinds of human chromosomal aberration karyotypes were reported for the first time providing an important basis for studying the occurrence and clinical consultation of chromosomal diseases.
ABSTRACT
Genealogy and cytogenetics examinations were performed on an infertility patient and her family members in the Second Affiliated Hospital of Hainan Medical University on 2016. The unique karyotype of proband: 46, XX, inv(9)(p12q13)dn, inv(20)(p13q13.1), 1qh+mat/46, XX, inv(20)(p13q13.1), 1qh+mat, No.4516, was discovered. The proband suffered from infertility and polycystic ovary syndrome. The proband′s second sister, with a karyotype of 46, XX, inv(20)(p13q13.1)mat, also suffered from polycystic ovary syndrome. The karyotype of the proband′s mother was 46, XX, inv(20)(p13q13.1), 1qh. The karyotype of the proband′s father was 46, XY, ?inv(9)(q32q34), inv(20)(p13p11.2). Inversion of chromosome 20 occurred in two generations of this family. Both the proband and her second old sister inherited the mother′s karyotype rather than the karyotype of their father. The abnormal karyotype may interfere with pregnancy, which leads to infertility. The size of the chromosomes and segments involved in inversion should be considered comprehensively in genetic counselling to provide more accurate genetic counselling information for the carriers, and a solid diagnostic basis for clinicians.
