Genetics Flashcards
1
Q
what is the most common cause of 46,XX sex reversal
A
SRY gene translocation
2
Q
What does the SRY gene do
A
male development
3
Q
most common cause of virilization
A
congenital adrenal hyperplasia
- however, does not cause complete masculinization of a female
4
Q
what does placental aromatase deficiency cause
A
maternal and fetal virilization
5
Q
what does RSPO1 gene do
A
ovarian development
- mutations will cause sex reversal, rare
6
Q
what does SOX9 do
A
sex determination
- stimulated by SRY
7
Q
most common cause of ambiguous genitalia
A
congenital adrenal hyperplasia (CAH)
8
Q
most common karyotype in congenital adrenal hyperplasia (CAH)
A
46, XX
9
Q
Klinefelter karyotype and phenotype
A
47, XXY Phenotypically male (tall, infertility, gynecomastia, small testes)
