Nowinski G P, Van Dyke D L, Tilley B C, Jacobsen G, Babu V R, Worsham M J, Wilson G N, Weiss L
Medical Genetics and Birth Defects Center, Detroit.
Am J Hum Genet. 1990 Jun;46(6):1101-11.
The clinical significance of low numbers of aneuploid cells in routine cytogenetic studies of cultured lymphocytes is not always clear. We compared the frequencies of chromosome loss and gain among five groups of subjects whose karyotypes were otherwise normal; these groups were (1) subjects studied because of multiple miscarriages, (2) parents of live borns with autosomal trisomy, (3) subjects studied because they had a relative with Down syndrome, (4) an age-matched control group of phenotypically normal adults studied for other reasons (e.g., parent of a dysmorphic child or member of a translocation family), and (5) other mostly younger and phenotypically abnormal subjects who could not be assigned to the first four groups (e.g., individuals with multiple congenital anomalies or mental retardation). No significant age, sex, or group effects were observed for autosomal loss (hypodiploidy) or gain (hyperdiploidy). Autosomal loss was inversely correlated with relative chromosome length, but autosomal gain was not. Sex-chromosome gain was significantly more frequent in females than in males, but sex-chromosome loss was not significantly different between the sexes. Significant age effects were observed for both gain and loss of sex chromosomes. When age and sex were accounted for, the frequencies of sex-chromosome loss and gain were not significantly different among the five clinical groups. In general, low numbers of aneuploid cells are not clinically important when observed in blood chromosome preparations of subjects studied because of multiple miscarriages or a family history of autosomal trisomy.
在培养淋巴细胞的常规细胞遗传学研究中，非整倍体细胞数量较少的临床意义并不总是明确的。我们比较了五组核型正常的受试者中染色体丢失和增加的频率；这五组分别是：（1）因多次流产而接受研究的受试者；（2）活产常染色体三体患儿的父母；（3）因有唐氏综合征亲属而接受研究的受试者；（4）因其他原因（如畸形儿童的父母或易位家族成员）接受研究的年龄匹配的表型正常成年人对照组；（5）其他大多较年轻且表型异常、无法归入前四组的受试者（如患有多种先天性异常或智力障碍的个体）。对于常染色体丢失（亚二倍体）或增加（超二倍体），未观察到显著的年龄、性别或组间效应。常染色体丢失与相对染色体长度呈负相关，但常染色体增加则不然。性染色体增加在女性中显著多于男性，但性染色体丢失在两性之间无显著差异。对于性染色体的增加和丢失均观察到显著的年龄效应。当考虑年龄和性别时，五组临床受试者中性染色体丢失和增加的频率无显著差异。一般来说，在因多次流产或常染色体三体家族史而接受研究的受试者的血液染色体标本中观察到少量非整倍体细胞时，其临床意义不大。
