448223
Description
Flashcards by gina_evans0312, updated more than 1 year ago
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Created by gina_evans0312
almost 12 years ago
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| Question | Answer |
| Genotype | Genetic Constitution of the individual or loci |
| Phenotype | Appearance of the cell/organism- basically, anything given by a non genotypic test |
| Diploid | Contains 2 copies of each chromosome |
| Haploid | Contains a single copy of each chromosome (and gene) |
| Polymorphic | The occurrence of different forms/stages/types of individuals of the same species or in an individual organism i.e. cells |
| Malformation | Morphological abnormality due to abnormal development |
| Syndrome | Set of developmental abnormalities occurring together in a recognizable/consistent pattern |
| Dismorphology | A study of malformations/disease |
| Gene Disorders- Mitochondrial | Have a maternal inheritence |
| Gene Disorders- Single Gene | Are caused by a single gene change |
| Gene Disorders- Multifactorial | Polygenetic and influenced by environment |
| Gene Disorders- Chromosomal Abnormalities | Number or structural issues |
| Gene Disorders- Multifactoral Mosaic | Defect impact varies according to expressivity |
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Male (image/png)
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Male |
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Female (image/png)
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Female |
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Unknown (image/png)
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Unknown sex |
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Afflicted (image/png)
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Afflicted |
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Unaffected (image/png)
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Unafflicted |
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Carriers (image/png)
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Carrier |
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Deceased (image/png)
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Deceased |
| Consanguinous Marriage | |
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Miscarriage (image/png)
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Miscarrage |
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Stillbirth (image/png)
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Stillbirth (with length of gestation underneath) |
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Termination (image/png)
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Termination |
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Monozygotic (image/png)
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Monozygotic Twins |
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Dizygotic (image/png)
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Dizygotic Twins |
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Uncertain (image/png)
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Uncertain Twins |
| Consanguinuity | Relationships between individuals who are second cousins or closer |
| Founder Mutation | A mutation occurring in one or more individuals who found a distinct population |
| Incest (English Law) | Grandparent-Parent/Grandchild Sibing-Sibling/Half Sibling |
| Double First Cousins | Both sets of parents are siblings (i.e. twin boys marry one each of twin girls) |
| Anticipation | The severity of an autosomal dominant phenotype may worsen over successive generations |
| Penetrance | % of individuals expressing a disorder to any degree |
| Age Penetrance | Where a disorder develops with age |
| Incomplete Penetrence | Where not all carriers develop the disease in their lifetime |
| Mosaicism | Where a tissue/organ is made of 2 genetically different cells |
| Somatic Mosaicism | Mutation arises early in embryogenesis so not all cells are mosaics |
| GermLine Mosaicism | New mutation arises in oo/spermatogenesis- no phenotype in parent but may transfer to offspring |
| Hemizygous | Posessing one allele of a gene, not the normal two |
| Gene Heterogenity | Where a disease may be caused by one of a multiple no of allelic/non allelic mutations |
| Uniparently Disomy | Where both alleles are inherited from one parent |
| Genomic Imprinting | Expression of a gene depends on which parent you inherited from |
| Differential Gene Expression | Where genes are only expressed on account of signals- allows cell differentiation in the body |
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