Developmental Genetics and Birth Defects Flashcards
The study of congenital birth defects that alter the shape or form of one or more parts of the body of a newborn child
Dysmorphology
What are the three categories of birth defects
malformations, deformations, disruptions
Structural defects that result from intrinsic abnormalities in one or more genetic programs operating in development, ex: polydactyly
Malformations
caused by intrinsic factors impinging physically on the fetus during development
Deformations
contractions of the joints of the extremities, in combination with deformation of the skull, are due to the constraint of the fetus during twin or triplet gestations or by prolonged leakage of amniotic fluid
arthrogryposes
a condition characterized by a generalized lack in the newborn of muscular development and growth, with contracture and deformity at most joints
amyoplasia
results from destruction of irreplacable normal fetal tsissue; structureal defects due to the breakdown of, or interference, with an originally normal developmental process
Disruptions
What do Hox proteins contain?
a 180-bp homeodomain or homeobox
What does HoxD13 develop?
caudal structures (hands, feet, genital tubercle)
What do HOXD13 mutations cause?
synpolydactyly
What role do TBX genes play?
differentiation of the 3 germ layers and later organogenesis
What do GATA genes do?
interact in cardiac differentiation
-contain one or two zing-finger motifs for DNA-binding
regulates genes critical for erythroid development (globin genes)
GATA 1
regulates endothelial gene expression and hematopoiesis
GATA 2
controls expression of TH2 helper T cell cytokine genes
GATA 3
