Study on The Pedigrees of Three Cases of Whole-Arm Translocation in Hainan China and Literature Review: A Retrospective Study

Document Type : Case Report

Authors

1 Department of Laboratory Medicine, Haikou Hospital of Traditional Chinese Medicine, Haikou, China

2 Pediatrics, The Third People's Hospital of Haikou City, Haikou, China

3 Department of Ultrasound Medicine, Second Affiliated Hospital of Hainan Medical University, Haikou, China

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.

Keywords

Main Subjects

References

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