Orphanet Journal of Rare Diseases. Complete loss of an entire X chromosome accounts for about half the cases of Turner syndrome. Klinefelter syndrome: the commonest form of hypogonadism, but often overlooked or untreated. Additional studies are needed to assess the risk associated with the procedure.
Two or more X chromosomes in males . Archives of Internal Medicine.
Views Read Edit View history. William Taeusch, Roberta A. Patients are usually phenotypically normal and may have the following features:. Uniparental disomy of chromosome 15 is, for example, seen in some cases of Prader-Willi syndrome and Angelman syndrome.
Between andKlinefelter went for one year to Boston to work at the Massachusetts General Hospital.
The primary features are infertility and small poorly functioning testicles. Most boys and men with Klinefelter syndrome will not be significantly affected and can live normal, healthy lives. You should see a specialist in children's hormones a paediatric endocrinologist at this time.
During cell divisionan error called nondisjunction prevents X chromosomes from being distributed normally among reproductive cells as they form.
This change in the egg or sperm seems to happen randomly. Hidden categories: CS1 maint: extra text: authors list CS1: long volume value CS1 maint: multiple names: authors list. Since most affected individuals can not make a woman pregnant, assisted reproduction specialists are available for help IVF using sperm from the donor.
Most patients are only mildly affected by neuropsychological and physical symptoms. This is a natural process which can be seen in female mammals, XX.