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例1 女,28岁,婚后2次妊娠,第1胎50天左右自然流产,第2胎足月顺产1先天性脑积水女婴,伴耳廓小、且下位等畸形,哭声低,2个月死亡。于1986年3月16日来遗传咨询门诊。体检:表型、智力正常,非近亲婚配。细胞遗传学检查:外周血淋巴细胞培养,染色体G显带,计数35个细胞,核型分析10个细胞,其核型为46,XX,t(6;8)(6pter→6q25::8q22→8qter;8pter→8q22::6q25→6qter)。其丈夫核型正常。家系调查:父母及2个姐姐表型均正常。母亲曾妊娠7胎,其中新生儿死亡1胎,2～3个月自然流产3胎,成活3胎。外周血淋巴细胞培养、染色体G显带分析,核型与患者相同,父亲与2个姐姐的核型正常。
Case 1 Female, 28 years old, 2 pregnancies after pregnancy, the first child about 50 days of spontaneous abortion, the second full-term pregnancy 1 congenital hydrocephalus baby girl with auricle small, and the lower deformity, crying low , 2 months died. March 16, 1986 to consult genetic counseling. Physical examination: phenotype, mental normal, non-relatives marriage. Cytogenetic examination: peripheral blood lymphocyte culture, chromosome G banding, counting 35 cells, karyotype analysis of 10 cells, the karyotype of 46, XX, t (6pter → 6q25 :: 8q22 → 8pter → 8q22 :: 6q25 → 6qter). The karyotype of her husband is normal. Pedigree survey: Parents and 2 sisters were normal phenotype. The mother had 7 pregnancies, of which 1 died of newborns, 2 to 3 months of spontaneous abortion 3, 3 survived. Peripheral blood lymphocyte culture, chromosome G banding analysis, karyotype and the same patient, father and two sisters normal karyotype.