Klinefelter's syndrome
Description
A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).; A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present.
Cell Lines
- CRICKi024-A
- CRICKi024-B
- CRICKi024-C
- CRICKi024-D
- CRICKi024-E
- CRICKi024-F
- CRICKi024-G
- CRICKi024-H
- CRICKi024-I
- KAUSTi001-A
- KAUSTi001-B
- KAUSTi003-A
- KAUSTi006-A
- KAUSTi006-B
- KAUSTi007-A
- KAUSTi007-B
- KAUSTi008-A
- KAUSTi008-B
- KAUSTi008-C
- KAUSTi008-D
- KAUSTi008-E
- KAUSTi008-F
- KAUSTi008-G
- KAUSTi009-A
- KAUSTi009-B
- KAUSTi010-A
- KAUSTi010-B