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Incontinentia pigmenti in a boy with XXY mosaicism detected by fluorescence in situ hybridization

1例荧光原位杂交检测存在XXY镶嵌的男孩出现色素失禁症

Case of partial mole was triploid , 69 , XXY and with a chromosomal contribution from the female gamete .

1例部分性葡萄胎为三倍体，69，XXY，来源为双精子与一卵子结合而成。文章对完全性葡萄胎和部分性葡萄胎的发生来源做了简要的讨论。

Objective : To observe the segregation of sex chromosomes in the spermatozoa of a 46 , XY / 47 , XXY patient with oligozoospermia .

目的：观察1例46，XY/47，XXY少精子症患者精子性染色体分离的情况。

Patients with Klinefelter 's syndrome are generally characterized by a 47 , XXY karyotype , seminiferous tubule dysgenesis , azoospermia and infertility .

Klinefelter综合征患者以47，XXY核型，睾丸精曲小管发育不良，无精子症和不育为特征。

Results : According to the patients ′ cytogenetics examination , it is found there are 11 cases abnormal chromosomal karyotypes , including 6 cases of chromosome translocation , 2 cases of 47 , XXY , 3 cases of big Y chromosome .

结果发现异常核型11例，其中染色体易位6例、2例47，XXY、3例大Y染色体。

Then were big Y chromosome , four cases , accounting for 7.02 % of patients studied and 17.39 % of those with ACK : 46 , XY / 47 , XXY and 47 , XXY , one case for each type .

其次为大Y染色体4例，检出率为7.02%，占异常核型的7.39%。46，XY/47，XXY和47，XYY各1例，检出率为1.75%，占异常核型的4.35%。