NSG OB/LD FS: Exam 1 (Cedarville University)

Aneuploidy

refers to a chromosome type other than sex chromosomes

Chromosomes

a thread-like framework composed of nucleic acids and proteins present in the majority of living cells’ nuclei and responsible for carrying genes, which carry genetic information

Anomaly

deviation from the usual or standard

genes

a unit of heredity passed down from parent to child and used to determine some trait of the offspring

mitosis

a cell division process that produces two daughter cells with the same number and type of chromosomes as the parent nucleus

meiosis

division of a cell into four daughter cells, each containing half as many chromosomes as the parent cell

prenatal

occurring prior to birth

postnatal

occurring after birth

haploid

refers to a single set of chromosomes being present

trisomy

a syndrome in which there is an extra copy of a chromosome in the cell nucleus, resulting in developmental problems

homologous

a pair of chromosomes having the same structure or pattern

monosomy

a diploid chromosomal complement in which one (typically the X) chromosome is missing its homologous (corresponding) companion

phenotype

the collection of traits that can be observed in an individual as a result of their genotype interacting with their enviroment

palmar crease

a line running across the palm of the hand

amenorrhea

the lack of a menstrual period in a female client who is of reproductive age

polygenic

influenced by more than one gene

genomics

the study of the structure, function, evolution, and mapping of genomes. It is a subfield of molecular biology

carcinogen

cancer-causing substance

carrier

an individual who does not exhibit manifestations of an autosomal recessive or sex-linked disease (or trait) but who “carries” and is able to pass on to their progeny a genomic variant (allele) linked to that disease (or trait)

humans have ____ chromosomes

46 (22 from sperm and 1 sex chromosome from each parent)

The most common chromosome deviation in humans & contributor to birth anomalies and spontaneous abortions

aneuploidy

most common aneuploidy

trisomy

trisomy

there are three copies of a certain homologous chromosome

monosomy

missing a chromosome is missing its homologous (typically X)

Example of trisomy

trisomy 21 (Down syndrome)

duplications

A kind of mutation in which a DNA segment, ranging in size from a few bases to a major chromosomal region, is produced in one or more copies

ring chromosome

circular structure that results from a chromosome’s broken ends fusing together after it breaks in two

isochromosomes

a structural anomaly in which the chromosome arms are mirror reflections of one other

deletions

a kind of mutation in which a DNA segment loses one or more nucleotides

translocation

happens when a chromosome splits and the two broken pieces reattach to separate chromosomes

inversions

occur when a segment splits off and rejoins the same chromosome in the opposite direction

amenorrhea

the lack of a menstrual period in a female client who is of reproductive age

polygenic

influenced by more than one gene

genomics

the study of the structure, function, evolution, and mapping of genomes. It is a subfield of molecular biology

nuchal translucency screening