chromosomes, chromosome abnormalities and birth defects Flashcards
congenital defects: explain the classification of congenital defects, and how non-genetic factors may lead to such defects
1
Q
single factors of chromosome abnormalities (MDDD)
A
malformation (early stage - defected organ e.g. heart, cleft palate); disruption (fine then process disrupted so not developed properly e.g. by infection or trauma; digital amputation due to amniotic band); deformation (fine then position changed by trauma, can be rectified e.g. ankle joint, club foot); dysplasia (abnormal organisation of cells e.g. bone development)
2
Q
multiple factors of chromosome abnormalities (SSA)
A
sequence (multiple abnormalities initiated by a primary factor e.g. Potter); syndrome (consistent pattern of abnormalities for a specific underlying cause e.g. Down); association: (non-random, not known to be sequence or syndrome e.g. VACTERL)
