国际生殖健康/计划生育杂志2025，Vol.44Issue(2)：125-127,3.DOI:10.12280/gjszjk.20240399
2号染色体臂间倒位合并罗伯逊易位一家系的遗传学分析
Genetic Etiology Analysis of A Family of Inter brachial Inversion of Chromosome 2 Combined with Robertson Translocation
摘要
Abstract
We report the cytogenetic analysis of a female patient who had been married for three years without pregnancy and her relatives.The karyotypes of the patient and the relatives were detected by peripheral blood cytogenetic analysis.The karyotypes of the patients were 45,XX,inv(2)(p23q21),der(14;22)(q10;q10),the father karyotype of the patient was 45,XY,der(14;22)(q10;q10),the karyotype of second sister was 45,XX,der(14;22)(q10;q10).Her mother,husband and eldest sister had normal karyotypes.The patient had both interbrachial inversion on chromosome 2 and Robertson translocation on chromosome 14 and chromosome 22,both of them may be the cause of infertility.关键词
染色体倒位/易位,遗传/不育,女(雌)性/细胞遗传学分析/病例报告Key words
Chromosome inversion/Translocation,genetic/Infertility,female/Cytogenetic analysis/Case reports引用本文复制引用
戴凯妹,张晶晶,程世斌,赵倩,郝胜菊,王兴..2号染色体臂间倒位合并罗伯逊易位一家系的遗传学分析[J].国际生殖健康/计划生育杂志,2025,44(2):125-127,3.基金项目
甘肃省科技计划项目-民生科技专项-社会发展专题(20CX4FA003) （20CX4FA003）
甘肃省卫生健康行业科研项目(GSWSKY2020-39) （GSWSKY2020-39）
