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本文首次报告一例核型为47,XXY,5p~-,兼有Klinefelter和Cri du Chat-(猫叫)两种综合征的活婴。1977年Hook等对56,952例活婴进行细胞遗传学分析,只有两例真正的和两例拟似的5p~-,而47,XXY却有35例,说明前者发病数很少,后者较为常见。患儿的母亲21岁,是初产妇。患儿是在怀孕33周后出生的,体重2115g。其父22岁,都是白人,无先天性疾病家族史。出生时,患儿因动脉导管未闭而有充血性心衰,呼吸困难,面色苍白。住院51天未见长大。出院后于7.5月龄又复住院。体检呈严重儿童生长延缓。小头,头围40cm,前
This is the first report of a karyotype of 47, XXY, 5p ~ -, both Klinefelter and Cri du Chat - (cat called) two live syndrome. In 1977, Hook et al. Performed cytogenetic analysis on 56,952 live babies. There were only two cases of real and two cases of similar 5p ~ -, while 47 and XXY had 35 cases, indicating that the former had very few cases and the latter was more common . The child’s mother is 21 years old and is primipara. Children born after 33 weeks of pregnancy, weighing 2115g. His father is 22 years old, all white, without a family history of congenital diseases. At birth, children with congenital heart failure due to patent ductus arteriosus, breathing difficulties, pale. 51 days did not grow up. After discharge at 7.5 months in hospital again. Physical examination showed a serious delay in child growth. Small head, head circumference 40cm, before