Karyotype Analysis on 3,078 Tibetan Patients with Infertility/Adverse Pregnancy and Childbirth History in Xizang
Bianba Yangzong
Ciren Wangmu
Li Lei
Abstract：Objective To analyze the patterns of karyotypic abnormality and polymorphism in peripheral blood lym-phocytes among Tibetan patients with infertility or adverse pregnancy and childbirth history in Xizang and to pro-vide referential data for clinical diagnosis.Methods A total of 3,078 Tibetan patients with infertility or adverse pregnancy and childbirth history who visited Fukang Hospital Affiliated to Xizang University between May,2017 and December,2023 were enrolled as study object.Peripheral blood chromosome karyotypes were prepared using G-banding.Results Among the 3,078 patients,karyotypic abnormality was detected in 50 cases(1.62%,50/3,078).Among the 1,563 male patients,34 cases(2.18%,34/1,563)showed abnormality,while among the 1,515 female pa-tients,16 cases(1.06%,16/1,515)showed abnormality.Major abnormality types included 47,XXY in 19 cases(38%,19/50),balanced translocation in 10 cases(20%,10/50),Robertsonian translocation in 5 cases(10%,5/50,),other abnormality such as deletion and inversion in 10 cases(20%,10/50),mosaicism of 47,XXX with normal karyotypes in 3 cases(6%,3/50),mosaicism of 47,XXY with normal karyotypes in 1 case(2%,1/50),mosaicism of 45,X with normal karyotypes in 1 case(2%,1/50),gender reversal in 1 case(2%,1/50)and chromosomal polymor-phism in 172 cases(5.59%,172/3,078).Conclusion The detection rate of chromosomal polymorphism observed in the infertile Tibetan population was higher than that reported in the general population.The potential association and underlying mechanisms deserve further investigation through larger sample scale and functional studies.
Keywords：XizangInfertilityAdverse pregnancy and childbirth historyChromosomal abnormality
Publication Date：2025-11-30
Online Publishing Date：2025-12-05(First online date of this platform, not the publication date of the document)
Pages：6( 61-66 )