Kosztolányi G
Acta Paediatr Acad Sci Hung. 1982;23(1):35-40.
Out of 692 patients referred for chromosome analysis because of abnormal clinical features, 199 (28.7%) had chromosomal abnormalities. In addition, assessment of the abnormal phenotypic features and the data of other (laboratory, X-ray, etc.) examinations revealed 25 (3.6%) single gene disorders, 25 (3.6%) recognizable syndromes or associations of unknown aetiology, and in 4 cases (0.6%) environmental agents were established as possible aetiological factors. Altogether, of the 692 cases, 253 (36.5%) had a definitive diagnosis, while the remainder 439 were undiagnosed. These results suggest that (i) chromosome analysis is worthwhile if the patient has significant clinical abnormalities, and (ii) a request for chromosome analysis should be viewed as one step in syndrome identification, so that a normal karyotype should stimulate the physician to further efforts to establish a diagnosis.
在因临床特征异常而接受染色体分析的692例患者中，199例（28.7%）存在染色体异常。此外，对异常表型特征的评估以及其他（实验室、X线等）检查数据显示，25例（3.6%）为单基因疾病，25例（3.6%）为病因不明的可识别综合征或关联，4例（0.6%）确定环境因素为可能的病因。在这692例病例中，共有253例（36.5%）得到明确诊断，其余439例未确诊。这些结果表明：（i）如果患者有明显的临床异常，染色体分析是值得的；（ii）染色体分析申请应被视为综合征识别的一个步骤，因此正常的核型应促使医生进一步努力以明确诊断。
