meds Genetics
Cytogenetics
Inheritance in relation to the structure and function of chromosomes.
Diploid
having two haploid sets of homologous chromosomes.
Haploid
Having a genetic number of chromosomes typically includes each pair of homologous chromosomes.
Apoptosis
Cell self destruction
Phenocopy
occurrence within a family of phenotypes that's similar to a particular disorder but developed in the absence of a genotype.
Alleles
Alternative forms of a gene.
Phenotypes
observed physical traits of a gene.
Chromosome disorder
defects due to excess or deficiency of all parts of a chromosome.
single gene defects
individual mutant gene
multifactorial inheritance
multiple genes combined with environmental influences
Gene mapping
map specific genes to specific chromosomes
Genome
genetic material
karyotype
chromosomes # and visual appearance
multifactorial inheritance
interactions b/w genes and environment
ex: familial clustering
Syndrome
Brachio-oto
pleiotropy
Syndrome- multiple abnormalities in parallel
sequence- mutation gene affects are single organ at one point in time then it effects another
Malformation
chromosomal imbalance - 25% trisomy, Single gene mutation 20 %, complex inheritance 50% environmental 5 %
Dysmorphology
a congenital defect that alters the shape or form of one or more parts of the body.
penetrance
the likelihood that a characteristic trait manifests itself
non-penetrance
failure to manifest "skip a generation"
obligated carrier
non penetrate condition that has affected children
Variable expressivity
Different features evident in different members of the family
De nov
new mutation