CAJ | 학술논문

目的研究7号染色体臂间倒位的遗传机制.方法患儿及父母作染色体检查,并对患儿的家系进行调查.结果患儿的染色体核型为46,XX,inv(7)(p22q11)/45,X,inv(7)(p22q11),其中46,XX,inv(7)(p22q11),85%,45,X,inv(7)(p22q11),15%.父亲的核型为46,XY,inv(7)(p22q11),母亲的染色体正常,患儿的母亲第1胎为3月自然流产,家系中其它成员均无流产史,母系成员中身材均偏矮小.结论染色体臂间倒位能引起流产和畸胎,应作产前诊断.
목적 연구7호염색체비간도위적유전궤제.방법 환인급부모작염색체검사,병대환인적가계진행조사.결과 환인적염색체핵형위46,XX,inv(7)(p22q11)/45,X,inv(7)(p22q11),기중46,XX,inv(7)(p22q11),85%,45,X,inv(7)(p22q11),15%.부친적핵형위46,XY,inv(7)(p22q11),모친적염색체정상,환인적모친제1태위3월자연유산,가계중기타성원균무유산사,모계성원중신재균편왜소.결론 염색체비간도위능인기유산화기태,응작산전진단.
Objective: To investigate the genetic mechanism of pericentric inversion of chromosome 7. Methods: The patient and her parents were chromosome karyotype analysed. Results: Cytogenetic evaluation by G banding a pericentric inversion of chromosome 7 and mosaic Turner syndrome, 45, XO/46, XX, inv (7) ( p22q11 ). The position of the centromeres was identified by the CBG technique. One hundred metaphases were counted with 45, XO, inv (7) in 15% and 46, XX, inv (7)in 85%. A family study revealed the same abnormal inversion in her father while the mother was normal . But her mother had short stature . Her father's karyotype was 46, XY, inv(7 ) ( p22q11 ). The inversion was paternal. This mother with miscarriage for her first pregnancy at 12 weeks gestation may be related to the consequence of unbalanced gamete. Conclusion: Amniocytic cytogenetic examinate should be indispensable for prenatal diagnosis and terminating pregnancy is suggested when the foetus is found with unbalanced inversion karyotype.