Vad Ärklinefelters syndrom?
Kvinnor har normalt två X-kromosomer, XX, medan män har en X- och en Y-kromosom, XY. Vid Klinefelters syndrom har man på grund av den extra X-kromosomen 47 kromosomer och därmed kromosomuppsättningen 47,XXY. Hur växer testiklarna? normalt men utvecklingen av testiklarna ser annorlunda ut.
Vad händer om man får två Y kromosomer i en spermie?
XYY ärvs inte utan tillkommer genom en mutation i tillverkningen av spermier. Det blir en förändring vid delningen som medför att spermien får två Y-kromosomer till skillnad från det normala tillståndet, med en Y-kromosom.
What is XXYY syndrome?
– The Association for X and Y Chromosome Variations What is XXYY Syndrome? Rick Frith 2021-04-29T15:35:25-04:00 What is XXYY Syndrome? XXYY Syndrome is the name attached to the cluster of symptoms that arise as a result of the 48,XXYY chromosome pattern.
Is 48 XXYY syndrome a variation of Klinefelter syndrome?
It was described in a 15-year-old mentally challenged boy who showed signs of Klinefelter syndrome; however, chromosome testing revealed 48,XXYY instead of the 47, XXY arrangement known to cause Klinefelter syndrome. Because of this, 48,XXYY syndrome was originally considered a variation of Klinefelter syndrome.
What causes extra sex chromosomes in 48 XXYY syndrome?
In 48,XXYY syndrome, the extra sex chromosomes almost always come from a sperm cell. Nondisjunction may cause a sperm cell to gain two extra sex chromosomes, resulting in a sperm cell with three sex chromosomes (one X and two Y chromosomes).
What are the treatment options for XXYY syndrome?
A karyotype is done to diagnose XXYY syndrome. Treatment consists of medications, behavioral therapies, and intensive community support. Patients generally need to be followed by an endocrinologist.