Genetics Flashcards
First 22 pairs of chromosomes, excludes the 2 sex chromosomes
Autosomes
Cell division in which 2 daughter cells with identical chromosomal composition to the parent cell, with each daughter cell containing 46 chromosomes are formed
Mitosis
Reproductive sperm and egg cell division in which each daughter cell receives half or 23 of the parent cell chromosomes
Meiosis
Originating prior to birth
Congenital
Failure of a pair of chromosomes to separate during mitosis or meiosis, resulting in daughter cells with unequal number of chromosomes
Nondisjunction
Presence of 2 genetically distinct types of cells in one individual, with some cells having 46 chromosomes and some having 47 chromosomes
Mosaicism
Transfer of a fragment of one chromosome to another chromosome
Translocation
Loss of genetic material from a chromosome
Deletion
An organism’s complete set of hereditary factors or genes
Genome
An individual’s genetic composition
Genotype
Physical appearance of a genetic trait
Phenotype
A chance change in a gene
Mutation
A trait that only requires one copy of a gene to be expressed phenotypically
Dominant
A trait that is expressed only when two copies of a gene are inherited
Recessive
Alternate forms of a gene that may exist at the same site on a chromosome
Alleles
The genetic principle that there is an X chromosome inactivation in females
Lionization
Photograph of the chromosomal makeup of a cell
Karyotyoe
Lack of spontaneous breathing effort
Apnea
Small teeth
Microdontia
A congenital connection between the trachea and esophagus leading to aspiration of food and requiring surgical correction
Tracheoesophageal fistula
Congenital malabsorption syndrome that leads to failure to gain weight and passage of loose, foul smelling stools. It is caused by intolerance of cereal products that contain gluten (wheat)
Celiac disease
Floppiness without weakness
Hypotonia
Deviation of one or both eyes during forward gaze
Strabismus
Jiggling of eyes
Nystagmus
Droopy eyelids
Ptosis
Inflammation of eyelids
Blepharitis
Abnormal contact of opposing teeth
Malocclusions
Hair loss
Alopecia
Trait transmitted by gene on X chromosome
X linked trait
Markedly enlarged testicals
Macroorchidism
Large head
Microcephalic
Immediate or delayed repetition of a word or phrase said by others
Echolalia
Repeat a response after the initiating stimulus is stopped
Perseverate
Partial loss of sight resulting from disuse atrophy of neural circuitry during a critical period of development, most often associated with untreated strabismus in children
Amblyopia
Middle ear infection
Otitis media
Chemical compound that can damage neurons
Neurotoxin
Recurring purposeless but voluntary movements
Stereotypies