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目的探讨身材矮小患儿染色体异常的细胞遗传学研究和临床分析。方法外周血淋巴细胞染色体核型分析。结果在800例身材矮小患儿中染色体正常核型668例,占83.5%;特纳氏(Turner,s)综合征132例,占16.5%(其中X单体49例,占37.1%;嵌合体61例,占46.2%;X染色体结构异常10例,占7.6%;含Y染色体12例,占9.1%),X染色体结构异常和含Y染色体的核型均经荧光原位杂交(FISH)检测证实。结论 Turner,s综合征是导致人身材矮小的重要原因之一,不同核型的临床表现取决于核型异常的程度及异常核型与正常核型细胞系的比例。含Y染色体的多伴有两性畸形,应早期施行预防性性腺切除术。
Objective To investigate the cytogenetic and clinical analysis of chromosomal abnormalities in short stature children. Methods Chromatin karyotype analysis of peripheral blood lymphocytes. Results Of the 800 children with short stature, 668 were normal karyotypes, accounting for 83.5%. Turner’s syndrome was 132 (16.5%), of which 49 were X, accounting for 37.1%. Chimeras 61 cases, accounting for 46.2%; X chromosome structural abnormalities in 10 cases, accounting for 7.6%; Y chromosome containing 12 cases, accounting for 9.1%), X chromosome structural abnormalities and Y chromosome karyotype were detected by fluorescence in situ hybridization (FISH) Confirmed. Conclusions Turner s syndrome is one of the major causes of short stature. The clinical manifestations of different karyotypes depend on the degree of karyotype abnormality and the proportion of abnormal karyotype to normal karyotype cell lines. More with Y chromosome associated with hermaphroditism, prophylactic gonadectomy should be implemented early.