Home > Preview
The flashcards below were created by user
on FreezingBlue Flashcards.
Receptor in achondroplasia
What is a charateristic of Patau syndrome?
- mental retardation
- Cleft lip and palate
What is a characteristic of Edwards syndrome?
- Prominent occipital bone
Cri du Chat?
- deletion on ch 5
- childs cry sounds like a meowing
Prader-Willi syndrom and Angelman syndrome?
- deletion in q arm of ch 15
- Prader-Willi syndrom--fathers chr inherited
- Angelman syndrome-mothers ch inherited
- sex reversal
- SOX9 gene in 17q
- hyperactivity of SOX9 gene causes testis development in absence of SRY gene
TDF present on Y chromosome
Congenital adrenal hyperplasia*
- affects cortisol biosynthesis in adrenal cortex
- 21 beta hydroxylase
- ovarian tissue but external male genitalia
- xx karyotype
XY genotype with female external genitalia
large z lod score means?
Branching in glycogen serves what purpose?
What would you like to do?
Home > Flashcards > Print Preview