DGS 3223 Chapter Notes - Chapter 1: Cystic Fibrosis, Neural Tube Defect, Infertility
8 Sep 2016
School
Department
Course
Professor
Document Summary
More cytogenetics vocabulary: dysmorphology the study of abnormal tissue development, malformation a morphologic defect in an organ resulting from an abnormal developmental process. Major congenital malformation a structural abnormality present at birth which requires surgical intervention. Minor congenital malformation a structural abnormality present at birth which is of little significance: deformation a morphological defect that is not developmental in nature. Scope of genetic defects: 4-7% of newborns have congenital defects; of those that are genetic in nature, there are several types. We all carry 140 deleterious recessive genes. Abnormalities in the number or structure of chromosomes. Greater than 50% of conceptuses 3 weeks or less. Most common cause of severe birth defects. Mental retardation iq of below 50. 100% have changes to dna, but not always on the chromosomal level. Avery welch medical cytogenetics prelim 1 chapter 1 intro to cytogenetics. 7-10% of congenital anomalies caused by environmental factors. Retinoids (vitamin a derivatives, accutane, retin a)
