Genetics diseases

Receptor in achondroplasia

FGFR3--constitutively active
What is a charateristic of Patau syndrome?
- mental retardation
- Cleft lip and palate
What is a characteristic of Edwards syndrome?
- Prominent occipital bone
- Hypertonicity
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
Camptomelic dysplasia
- sex reversal
- SOX9 gene in 17q
- hyperactivity of SOX9 gene causes testis development in absence of SRY gene
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
Male pseudohermaphroditism

XY genotype with female external genitalia
large z lod score means?

genetic linkage
Branching in glycogen serves what purpose?

increases solubility

Author

pszurnicki

62213

Card Set

Genetics diseases

Description

Genetics diseases

Updated

2011-02-08T21:11:21Z

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