Patho 1 Final Exam Flashcards
when a cell has 92 chromosomes, it is called what?
Teraploidy
Each somatic cell nucleus has 46 chromosomes on 23 pairs. This type of cell is called?
Diploid cells
What type of cell is formed from diploid cells by meiosis?
Haploid cells
A cell that does not contain a multiple of 23 chromosomes is called?
Aneuploid cells
What type of cell is usually a result of nondisjunction?
Aneuploidy
A cell containing three copies of one chromosome is called?
Trisomy
When a chromosome fails to separate normally during meiosis or mitosis is called?
Nondisjunction
Trisomy of the 21st chromosome is what ?
Down Syndrome
Individuals with at least two X chromosomes and one Y chromosome on each cell is said to have what?
Klinefelter syndrome
Broken chromosomes and lost DNA cause what?
Deletions
Which has more severe outcomes, Deletions or Insertions?
Deletions
Characteristics of Down Syndrome
Low nasal bridge, epicanthal folds, protruding tongue, low-set ears
What are the risks associated with having a child with Downs Syndrome?
Females over 35 yrs old
Monosomy of X chromosome is what?
Turner syndrome
Characteristics of Turners syndrome
Short stature common, characteristic webbing of neck, widely spaced nipples, reduced carrying angle at elbow
Can a male get Turners syndrome?
No, Females only
The composition of genes at a given locus is known as?
Genotype
The outward appearance of an individual, which is the result of both genotype and environment is?
Phenotype
Best known autosomal dominate disease is
Huntington’s Disease
Characteristics of Huntington’s Disease
Late onset of symptoms, progressive dementia and increasingly uncontrollable limb movements
An allele whose effects are observable are said to be
Dominate
An allele whose effects are hidden are said to be
Recessive
An individual who has the disease gene but is phenotypically normal is a
Carrier
What is consanguinity?
Inbreeding