Yanagisawa S
Hum Genet. 1980 Feb;53(2):183-8. doi: 10.1007/BF00273493.
Three infants with different types of Y-chromosome anomalies, including short- and/or long-arm deletion and mosaicism, are reported. The karyotypes of these patients were: 45,X/46, X,del(Y)/47,X,del(Y), del(Y) on peripheral lymphocytes and 45,X/46,2, del(Y) on gonadal tissue (case 1), 45,X/46X,del(Y) (case 2), and 45,X/46X,r(Y) (case 3). In case 1 the euchromatic segment on the deleted Y was distinctly larger than that of the father's Y. The three infants had no gross phenotypic anomalies except ambiguous genitals and low birth weight, and they were small for date. The histologic diagnosis in two of them was mixed gonodal dysgenesis (cases 1 and 2). The relationship between structural abnormalities of the Y chromosome and ambiguous genitals as well as male-determining factors is discussed.
本文报告了3例患有不同类型Y染色体异常的婴儿，包括短臂和/或长臂缺失以及嵌合体。这些患者的外周血淋巴细胞核型分别为：45,X/46, X,del(Y)/47,X,del(Y), del(Y)，性腺组织核型为45,X/46,2, del(Y)（病例1）；45,X/46X,del(Y)（病例2）；45,X/46X,r(Y)（病例3）。病例1中，缺失Y染色体上的常染色质片段明显大于父亲Y染色体上的相应片段。这3例婴儿除生殖器模糊和低出生体重外，无明显的表型异常，且均小于胎龄。其中2例的组织学诊断为混合型性腺发育不全（病例1和病例2）。本文还讨论了Y染色体结构异常与生殖器模糊以及男性决定因素之间的关系。
