Clinical teratology defination

clinical teratology 

 Teratogenesis

 All event take place to cause birth defect called teratogenesis and birth defect called teratology
 some factor that cause teratogenesis which are
 1 environmental factor 
2 genetic factor 
 3 stochastic factor

Genetic factor

genetic factor cause addition or deletion of gene or chromosome

Example

Down syndromes cause due to addition of chromosome on chromosome no 21 and it is trisomy like XXX or XXY. turner syndrome is also cause due to genetic factor

Environmental factor that cause teratology 

Environmental factor like chemical bacteria and viruses that cause teratology

Stochastic or random factor

Stochastic factor rp

protein defect that take place at transcription and translation stages cause due to random factor

Pleiotropy

when single gene express more than one phenotypic trait called pleiotropy

Type of pleiotropy

1 Mosaic pleiotropy

2 relational pleiotropy

Mosaic pleotropic

When single gene locus directly effects on two trait called mosaic pleiotropy

Example

KIT gene

This gene causes mutation in pigment cell, blood cell, germ cell

If pigment cell defect it causes albino condition if blood cell defect it cause anaemia.

 if germ cell defect it causes sterility

Relational pleotropic

If one defect trait effect on other trait called relational pleiotropy

Example

MITF GENE

Mitf gene cause disease retinal pigment in eye  it also damage choroid tissue which causes loss of vitreous houmous that cause decrease size of eye called microphthalmia.

 teratogenesis MITF GENE

 KIT GENE

Teratology  teratogenesis