Pathology prep exam 1 questions & answers 2024/2025
Genotype - ANSWERSThe genetic make-up of the individual
Phenotype - ANSWERSThe manifestations of the genotype - what you see
Expressivity - ANSWERSthe degree to which a genotype is expressed in the phenotype (mild to severe) (severity)
...
Genotype - ANSWERSThe genetic make-up of the individual
Phenotype - ANSWERSThe manifestations of the genotype - what you see
Expressivity - ANSWERSthe degree to which a genotype is expressed in the phenotype (mild to severe)
(severity)
Penetrance - ANSWERSThe ability of a gene to express its function (percentage) ex. BRCA gene for breast
cancer (80% likely to go on to develop breast cancer.
Trisomy 21 (Down Syndrome) - ANSWERSGenetic disorder resulting from the presence of 3 #21
chromosomes; characterized by heart and respiratory defects and varying degrees of metal retardation.
Risk includes maternal age older than 35.
Monosomy X (Turner Syndrome) - ANSWERSOccurs when there is only one member of a chromosome
pair & always lethal except with (Turner's syndrome).
Autosomal Recessive Disorders - ANSWERSManifest when both gene pair are affected, both parents are
carriers of the trait or both parents are affected but both must have mutant allele. Ex. Cystic Fibrosis
(CF), Tay-Sachs Disease, and PKU. Chance of inheritance if both parents are carriers, the risk of having
offspring with genetic disorder is 25%.
X-Linked Recessive Disorders - ANSWERSAffect males more often than females because men don't have
that extra X chromosome like women do to dominant that mutant chromosome. If a male is affected by
an X-linked disorder, he would pass it on to his daughter. Inheritance pattern to male offspring is 50%
and to female offspring 50%
, multifactorial disorders - ANSWERSCaused by multiple genes and environmental factors, cannot be
predicted with same accuracy as single gene mutations. Ex. Cleft lip, cancer, hypertension (diet, exercise,
weight), diabetes
Aneuploidy - ANSWERSA change in chromosome number
Polysomy X (Klinefelter's) - ANSWERSMore than 2 chromosomes at a pair usually trisomy. Also rare, with
the exception of Down syndrome.
Disorders of chromosome number often due to_________ during _______. - ANSWERS1. Nondisjunction
2. Meiosis
Chromosomal abnormality present in people with Down Syndrome - ANSWERSTrisomy 21,
typical mechanisms that lead to this is nondisjunction in meiosis
risk includes: maternal age older than 35
manifestations include: Intellectual disability, congenital heart defects, increased risk of Alzheimer's
disease, and characteristic physical features
Klinefelter Syndrome (XXY) - ANSWERSGenotype: The presence of one or more extra X chromosome in a
male patient (47, XXY)
Phenotype: Tall stature
Turner Syndrome (45, X) - ANSWERSGenotype: (45, X) the individual is a female but displays some
difference in physical and sex characteristics
Phenotype: small stature, broad chest with widely spaced nipples
Mitochondrial DNA inheritance - ANSWERSInherited strictly from mom (maternal)
Inheritable mutation - ANSWERSHas to be present in germ cells (sex cells)
Epigenetics - ANSWERS"Upon genetic" process that modulate how the genomic information gives rise to
the phenotype. Ex. "DNA Methylation" and Genomic Imprinting
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