Klinefelter Syndrome - Children's Hospital of Philadelphia
In Klinefelter syndrome, there are two X chromosomes and a Y chromosome (XXY). In rare cases, additional X chromosomes (XXXY or XXXXY) may also be linked to Klinefelter …
染色体病科普之克氏综合征(47,XXY) - 知乎专栏
常见染色体核型为:47,xxy, 嵌合型:46,xy/47,xxy。 其原因是精子或卵子在生长发育过程中,X染色体不分离所致。 克氏综合征患者由于存在一条额外的X染色体,往往存在男性 性腺功 …
Prenatal phenotype of 47, XXY (Klinefelter syndrome) - PubMed
This case series expands our knowledge of the prenatal presentation of 47, XXY by identifying first and second trimester fetal sonographic abnormalities. Prenatal identification of this …
Chapter 135: 47,XXY (Klinefelter Syndrome) - McGraw Hill Medical
Klinefelter syndrome (47, XXY karyotype) is the spectrum of phenotypic features resulting from a sex chromosome complement that includes two or more X chromosomes and one Y …
Klinefelter Syndrome Diagnosed by Prenatal Screening Tests in …
Klinefelter syndrome is a chromosomal disorder present in 1 out of 400 to 1,000 male newborns in Western populations. Two-thirds of affected newborns show a karyotype of 47,XXY. Few …
Sex chromosome aneuploidies and fertility: 47,XXY, 47,XYY, …
2023年9月1日 · I shall review the fertility aspects of the sex chromosome trisomies, XXY, XYY, and XXX, with special reference to the karyotype 45,X/47,XXX. Each has a ‘specific’ (but …
Maternal-Fetal Medicine - LWW
Among the 19 cases of confirmed fetal XXY, 14 elected pregnancy termination, and the rest five led to live birth. Four of the five babies (1 month, 5 months, 1 year, 1.5 years old, respectively) …
乔杰团队在Nature发表克氏综合征男性不育机制研究新成果
2024年10月31日 · 该研究以导致男性不育最常见的性染色体疾病——克氏综合征(核型47,XXY)为代表,系统揭示了额外的X染色体导致男性胎儿生殖细胞(Fetal germ cell, …
Cell-free DNA was extracted from maternal peripheral blood to have a high-throughput massively parallel sequencing procedure. Cases with high-risk of fetal XXY were suggested to take …
Understanding Klinefelter Syndrome
XXY occurs when a male has an extra X chromosome in some or all cells of his body. About 1 out of every 660 males is born with XXY, and there about 300,000 with this condition in the U.S. …
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