Card Set Information
Receptor in achondroplasia
What is a charateristic of Patau syndrome?
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
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
XY genotype with female external genitalia
large z lod score means?
Branching in glycogen serves what purpose?