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Genetic disorder


Dysmorphology Study of atypical anatomical development or morphogenetic, resulting in abnormal physical features
Malformation Structural defect in an organ or body part due to abnormal development process (cleft palate, polydactyly)
Dysphagia Abnormal organization of cells into tissues and the structural consequences (hemangioma, limb defect)
Deformation Alteration in the form, shape, or position of a normally formed body part by mechanical forces in the fetal period (not embryogenesis) and can be due to intrinsic or extrinsic forces. (plagiocephaly, internal tib rotation)
Homozygous Same allele on both chromosome pairs
Heterozygous Different alleles on each chromosome
Genotype Persons alleles and precise genetic makeup at a specific locus
Phenotype The physical manifestation of the genotype (the genotype and phenotype donta always agree)
Polymorphism Alteration not causing a disease
Mutation Genetic alteration that causes a disease
Dominant disease Singlemcopy of a mutation so that heterozygotes will be affected
Haploisufficiency Occurs in dominant disorders when there is a 50% reduction in a protein and then causes a loss of function disease
Recessive genetic disorders Requires both copies of the allele to be mutated
Craniosynostosis Caused by abnormal differentiation of neural crest cells and has now been associated with nearly 100 syndromes.
Chromosomal abnormalities Chrom # or structure is altered. Cause genetic disordered. In general not hereditary.
Mosaic trisomy Full trisomy conception followed by loss of extra chromosome in some cells during mitosis of embryo. Clinical manifestations are then mild.
Created by: NikellieDPT