隱睪症是指睪丸未完全下降至陰囊中。我們針對110例睪症患者之血液標本的染色體分析結果做加以研討。其中95例（84.4%）呈正常男性46,XY之核型；而有15例（13.6%）呈染色體分析異常。所有異常均發生於性染色體。共有7例屬於Klinefelter症候群及其變異型和併湊型（3 XXY, 1　XXXXY, 2 XY/XXY, 1　XX/XY）其它存在之併湊症包括45,X/46,XY, 45X/46,XX/46XY。有4例為Y染色體長度異常：長臂常異常長（長Y）者有3例，長臂異短（短Y）者有1例。另有1例為XX男性症。隱睪症患者染色體異常發生率雖稍高於正常男性族群，但其差別並無統計學上之意義（p>0.1）。兩側隱睪症的患者，並不比單側隱睪症患者有較多染色體異常之可能，而且隱睪症之嚴重度（睪丸所在的位置）也和染色體異常沒有關聯。併有其它先天性異常的隱睪症患者之染色體異常的發生率在統計學上明顯多於僅只有隱睪症之患者（p<0.05）。世界文獻中以染色體分析之觀點來探討隱睪症的報告至今只有十多篇，且其間之結果相差不少。本篇報告可加強吾人對這方面進一步的認識和瞭解。至於是否所有隱睪症之患者均需做染色體分析，我們建議至少併有其它先天性異常之隱睪患者皆應作染色體之分析檢查。

The chromosomes of peripheral blood samples from 110 patients with cryptorchidism were analyzed. Ninety-five (86.4%) were found to have 46,XY normal male karyotype and 15 (13.6%) were found to have chromosomal anomalies. All the anomalies occurred in sex chromosomes. There were seven cases of Klinefelter’s syndrome with its variant and mosaic forms (3 XXY, 1　XXXXY, 2 XY/XXY, 1　XX/XY). Other mosaicism such as 45,X/46,XY, 45X/46,XX/46XY also existed. Besides, one XX male, one small Y, and 3 long Y were also identified. The incidence of chromosomal anomaly in cryptorchidism was a little higher than in the general population, but the difference was not statisically significant (p>0.1). Cases of bilateral cryptorchidism did not have more chromosomal anomalies than those of unilateral cryptorchidism. The incidence of chromosomal anomalies with associated abnormalities in cryphtorchidism was significantly higher than in that with cryptorchidism only (p<0.05). Chromosome analysis highly recommended in cryptorchid patients with associated anomalies.