Genetic disorder Word Scramble
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Question | Answer |
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
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