A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities.
A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities.
复制标题
对 14,069 名新生儿进行的细胞遗传学调查。
作者：
J. Hamerton;N. Canning;M. Ray;Shelley D. Smith
本文介绍了14，069例连续新生儿的染色体检查数据。使用短期血培养和常规染色方法，成功地对13，939名婴儿进行了核型分析。其中，13，645名婴儿具有正常染色体; 64名（0.46%）具有主要染色体异常; 230名（1.65%）具有标记染色体;总共有294名（2.11%）婴儿具有主要染色体异常或独特的标记染色体。6例性染色体异常男婴的核型为47，XXY，4例为47，XYY，3例为混倍体。5例女婴的核型为47，XXX，2例为混倍体。有三个婴儿的外生殖器不明确，都具有正常的核型。14名婴儿患有21-三体;有3名18-三体和1名13-三体。一个18三体婴儿的母亲有一个平衡（18;21）易位。24名婴儿有染色体平衡重排。其中11个是相互的，13个是罗伯逊易位。一个婴儿有一个不平衡的衍生染色体，这是由18;11插入造成的。发现两名婴儿有其他不明碎片。检测到230名婴儿（1：60）携带独特的染色体变异。男性中最常见的变异是Yq+（0.89%）。其他常见变异包括D和G组的短臂（分别为0.32%和0.57%）、16 q+（0.09%）和1 q+（0.04%）。本研究的结果与其他五项类似的研究相结合，共包括46，150名新生儿，表明主要染色体异常的频率在1：150和1：200之间。这在所有染色体异常的孕体中占很小比例，估计约为1：20。由此可见，染色体异常构成了人类遗传负荷的主要部分。染色体显带技术的发展已经增加了人类细胞遗传学的复杂性，并可能揭示许多常规方法检测不到的额外重排。
Data from a chromosome examination of 14,069 consecutive newborn infants is presented. Successful karyotypes were obtained on 13,939 babies using short-term blood cultures and conventional staining methods. Of those, 13,645 babies had normal chromosomes; 64 (0.46%) had a major chromosome abnormality; and 230 (1.65%) had a marker chromosome; giving a total of 294 (2.11%) babies with a major chromosome abnormality or distinctive marker chromosomes. Six male babies with sex chromosome abnormalities had a 47,XXY and four a 47,XYY karyotype, and three were mixoploids. Five female babies had a 47,XXX karytotype and two were mixoploids. There were three babies with ambiguous external genitalia, all with normal karyotypes. Fourteen babies had 21-trisomy; there were three 18-trisomics and one 13-trisomic. The mother of one 18-trisomy baby had a balanced (18;21) translocation. Twenty-four infants had a balanced chromosome rearrangement. Eleven of these were reciprocal and thirteen were Robertsonian translocations. One baby had an unbalanced derivative chromosome resulting from an 18;11 insertion. Two infants with additional unidentified fragments were detected. Two hundred and thirty babies (1:60) carying distinctive chromosome variants were detected. The commonest variant was the Yq+ among males (0.89%). Other common variants involved the short arms of the D and G groups (0.32% and 0.57%, respectively) 16q+ (0.09%), and 1q+ (0.04%). The results of the present study when combined with five other comparable studies, thus comprising a total of 46,150 newborn infants, indicates that the frequency of major chromosome abnormalities is between 1:150 and 1:200 live-born babies. This represents a small proportion of all conceptuses with chromosome abnormalities, which has been estimated as being approximately 1:20. It is thus clear that chromosome abnormalities form a major part of the genetic load carried by the human population. The development of chromosome banding techniques already has increased, and with further increase, the complexities of human cytogenetics and may reveal many additional rearrangements undetectable by conventional methods.