448223
Description
Flashcards by gina_evans0312, updated more than 1 year ago
|
Created by gina_evans0312
almost 11 years ago
|
|
| 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 |
|
Image:
Male (image/png)
|
Male |
|
Image:
Female (image/png)
|
Female |
|
Image:
Unknown (image/png)
|
Unknown sex |
|
Image:
Afflicted (image/png)
|
Afflicted |
|
Image:
Unaffected (image/png)
|
Unafflicted |
|
Image:
Carriers (image/png)
|
Carrier |
|
Image:
Deceased (image/png)
|
Deceased |
| Consanguinous Marriage | |
|
Image:
Miscarriage (image/png)
|
Miscarrage |
|
Image:
Stillbirth (image/png)
|
Stillbirth (with length of gestation underneath) |
|
Image:
Termination (image/png)
|
Termination |
|
Image:
Monozygotic (image/png)
|
Monozygotic Twins |
|
Image:
Dizygotic (image/png)
|
Dizygotic Twins |
|
Image:
Uncertain (image/png)
|
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 |
Want to create your own Flashcards for free with GoConqr? Learn more.