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一例三代遗传性9号染色体臂间倒位inv(9)(p13;q12)
Case Report of Inheritary No.9 Chromosome Inversion in 3 Generations (p13;q12)
【摘要】 在产前诊断中发现1例已遗传三代的9号染色体臂间倒位。按标准方法获得淋巴细胞与羊水细胞的中期分裂相。全部标本均常规地作了 G 带和 C 带。每例计数30~223个中期分裂相。先证者是—4(?)月的胎儿,其羊水细胞的核型是46,XX,inv(9)(p 13;q 12)。父亲与外祖母核型正常,但母亲,多发畸形儿与外祖父的核型与胎儿相同。讨论了臂间倒位的诊断意义。
【Abstract】 We found a case of 3 generation heredity pericentric inversion of №.9 in pre-natal diagnosis.Lymphocytes and amniotic fluid cells mitosis were obtained bystandard methods.The trypsin-Giemsa banding and C banding were rountinely usedon all specimens.30~223 metaphase were counted in each case.The proband was afetus of 4~+ months.Her karyotype of amniotic fluid cells was 46,xx,inv(9)(p13;q21).Her father and grandmother in law were normal.But the karyotype of hermother,elder sister with multiple congenital malformation and grandfather in lawwere the same as the fetus.The significance of perinatal diagnosis was discussed.
- 【文献出处】 天津医药 ,Tianjin Medical Journal , 编辑部邮箱 ,1988年08期
- 【被引频次】1
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