Lespinasse J, Gicquel C, Robert M, Le Bouc Y
Laboratoire de Cytogénétique, Centre hospitalier de Chambéry, France.
Clin Genet. 1998 Jul;54(1):56-9. doi: 10.1111/j.1399-0004.1998.tb03694.x.
Turner syndrome (TS) is a common disorder (1/2500 and 1/5000 female births) which is diagnosed at birth in approximately 20% of patients and during childhood (usually due to growth retardation) or later, (due to lack of pubertal development) for the remaining patients. Here we present a cytogenetic and molecular analysis of three monozygotic sisters. The diagnosis of TS was done for one of them (patient 1) who presented with a typical Turner phenotype. A first karyotype was established as normal and a second karyotype (carried out on 200 cells) revealed a 45,X/46,XX mosaicism with 6% of cells with a 45,X karyotype. Lymphocyte karyotype analysis showed the same mosaicism pattern for the two other sisters, one of them exhibiting only a mild (patient 2) and the other no clinical features of Turner syndrome (patient 3). Karyotype analysis was this time conducted on fibroblasts and showed that the 45,X/46,XX mosaicism pattern correlated with the clinical phenotype with 99, 43 and 3% of 45,X cells in patients 1, 2, and 3, respectively. These data suggest that different tissues other than lymphocytes should be subjected to a karyotype analysis when the observed genotype does not correlate with the clinical phenotype.
特纳综合征（TS）是一种常见疾病（在女性出生中的发病率为1/2500至1/5000），约20%的患者在出生时被诊断出，其余患者则在儿童期（通常由于生长发育迟缓）或更晚（由于青春期发育缺乏）被诊断出来。在此，我们展示了对三胞胎姐妹的细胞遗传学和分子分析。其中一人（患者1）表现出典型的特纳综合征表型，被诊断为TS。最初的核型被确定为正常，第二次核型分析（对200个细胞进行）显示为45,X/46,XX嵌合体，其中6%的细胞具有45,X核型。淋巴细胞核型分析显示另外两个姐妹也有相同的嵌合体模式，其中一人仅表现出轻微症状（患者2），另一人没有特纳综合征的临床特征（患者3）。这次对成纤维细胞进行了核型分析，结果显示45,X/46,XX嵌合体模式与临床表型相关，患者1、2和3中45,X细胞的比例分别为99%、43%和3%。这些数据表明，当观察到的基因型与临床表型不相关时，除淋巴细胞外，还应对其他不同组织进行核型分析。
