Hi,
Other than the multiple following issues, the patient is a usually healthy, robust 42yo male.
Patient was born with an undescended right testicle, but has normal male genitalia.
The patient and his wife (who has been able to bear 2 children in a previous marriage) have been trying unsuccessfully to get pregnant for the past 4 years.
A genetic test which found “46, XX”, also indicated a pericentric inversion in chromosome 2 [“inv(2)(p11.2q13)”], and also confirmed CLL [due to “del(13)(q12q22)”] :
“Results
46,XX,inv(2)(p11.2q13)?c, del(13)(q12q22)[2]/
46,XX,inv(2)(p11.2q13)?c[16]
Interpretation:
Abnormal female karyotype at the 350 band level as determined by the trypsin-Giemsa method.
Analysis showed a deletion the long arm of chromosome 13 in 2 cells (11%).
In addition, an inversion of chromosome 2 was observed in all cells.”
My questions are:
1. What is the clinical meaning of “46,XX”?
2. What is the clinical meaning of “Abnormal female karyotype”?
3. Is the patient genetically a female?
4. Is the patient irreversibly infertile?
5. Does the inversion in chromosome 2 [inv(2)(p11.2q13)] contribute to infertility?
Thanks!
Asked by: David Hockney