Klinefelter syndrome


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Related to Klinefelter syndrome: Turner syndrome, cri-du-chat syndrome
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Noun1.Klinefelter syndrome - syndrome in males that is characterized by small testes and long legs and enlarged breasts and reduced sperm production and mental retardation; a genetic defect in which an extra X chromosome (XXY) is present in the male
syndrome - a pattern of symptoms indicative of some disease
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References in periodicals archive ?
To the best of our knowledge, to date, only four reports are available on patients with Klinefelter syndrome and an additional sSMC.
Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism.
Outcomes of 13 ICSI-PGD cycles with ejaculated spermatozoa in patients with Klinefelter syndrome. Asian J Androl 2016;18:498-9.
The genetic origin of Klinefelter syndrome and its effect on spermatogenesis.
[15.] Morris JK, Alberman E, Scott C, Jacobs P (2008) Is the prevalence of Klinefelter syndrome increasing?
Although IP is mostly a male lethal syndrome, it rarely occurs in males with Klinefelter syndrome or a genomic mosaicism.
Three weeks later, the pediatrician called Mark and his parents to tell them that the testing revealed that he had Klinefelter syndrome, or an extra X chromosome in a male.
Individuals with primary hypogonadism due to Klinefelter syndrome consistently present with lower BMD compared to that of age-matched controls [113-119], though two smaller studies did not demonstrate any difference in BMD [98, 120].
Thus, SHOX haploinsufficiency is associated with short stature (as seen with Turner syndrome), and additional SHOX genes (as seen with sex-chromosome polyploidies such as Klinefelter syndrome, triple X syndrome, and XYY syndrome) are associated with tall stature [5].
Klinefelter syndrome must be ruled out in cases of gynecomastia or, alternatively, rarer cases of disorders of sexual development.
Birmingham Children's Hospital found he had a strand of Klinefelter Syndrome only found in 10 other people.
Microspherophakia is usually associated with systemic disorders such as Weill-Marchesani syndrome (WMS), homocystinemia, Marfan syndrome, Alport syndrome and Klinefelter syndrome. (2,3,4,5,6,7,8,9,10) Less commonly, it has been reported with other disorders such as Lowe syndrome, Peter's anomaly, cri-du-chat syndrome, hyperlysinaemia, and rhizolemic form of chondrodysplasia punctata.