Intro To Genetics- Lecture 8/25/21 Flashcards
Modes of inheritance
Mendelian and non-Mendelian
Dysmorphology
The abnormal shape and characteristics of a patient
Phenotype
The outward (observable) appearance of an individual ex: hair color, eye color, height
Genotype
Genetic makeup of an individual, description of chromosomes or alleles
Allele
Particular copy of a gene on a chromosome, have 2 per each deal
Karyotype
Chromosome analysis under a microscope
Trisomy
Three copies of a chromosome, usually not survivable
Somatic
Occurring in the body, but not in the gametes
Germline
Occurring in the testes or ovaries and can be passed to offspring
Mosaic
Two or more cell lines in one person, 45X or 46XX (mosaic is for Turner syndrome)
Pathogenic
Genetic alteration causing disease
Benign
Not pathogenic genetic changes
Uncertain
Unclear if it causes disease state or not (usually the case)
Constitutional
Present at birth, usually in all cells (used in the context of cancer
Acquired
Change happens after birth, associated with cancer, usually somatic
Congenital
Present at birth, usually before birth
Inherited
Passed on from a parent (can have genetic changes that are not inherited)
Pedigree
Essential for history taking, suspecting mode of inheritance, identify at-risk relatives
Male, female, sex unspecified
Open square, open circle, open diamond
Consultant
Arrow pointing to open square/circle
Deceased
Lined out square/circle
Affected with trait
Filled in square/circle
Carrier (autosomal recessive or X-linked)
Dot in the middle
Adopted
Bracketed
Consanguinity
Married to a blood relative-> double line indicating marriage
