Hamerton J L, Ray M, Abbott J, Williamson C, Ducasse G C
Can Med Assoc J. 1972 Apr 8;106(7):776-9.
The results of chromosome studies on 6809 consecutive newborn infants are presented. One hundred and one (1.48%) were heterozygous for a marker chromosome, the significance of which is not at present clear. Twenty-two infants (0.32%) had a major chromosome abnormality. Only six of these infants (0.09%) had a clinically recognizable abnormal phenotype (Down's syndrome). The occult chromosome abnormalities included five sex chromosome abnormalities (one 47,XYY; two 47,XXY; two 47,XXX) and 11 balanced translocations. Seven of these were t(DqDq) and four were reciprocal translocations. The results of the present survey are combined with four other similar neonatal surveys in which a total of 23,328 newborns have been screened. Of these, 117 (0.5%; range 0.65-0.32%) had major chromosome abnormalities. The majority of these (72.7%) would not have been detected at birth without chromosome studies, an important fact in the context of prenatal diagnosis of chromosome disease and the early ascertainment of high-risk families.
本文呈现了对6809例连续新生儿进行染色体研究的结果。其中101例（1.48%）为标记染色体杂合子，其意义目前尚不清楚。22例婴儿（0.32%）存在主要染色体异常。这些婴儿中只有6例（0.09%）具有临床上可识别的异常表型（唐氏综合征）。隐匿性染色体异常包括5例性染色体异常（1例47,XYY；2例47,XXY；2例47,XXX）和11例平衡易位。其中7例为t(DqDq)，4例为相互易位。本调查结果与其他四项类似的新生儿调查结果相结合，这四项调查共筛查了23328例新生儿。其中117例（0.5%；范围0.65 - 0.32%）存在主要染色体异常。如果不进行染色体研究，这些异常中的大多数（72.7%）在出生时无法被检测到，这在染色体疾病的产前诊断和高危家庭的早期确定方面是一个重要事实。
