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Module 13 in the Syllabus

Human Genetics Images
Image gallery for study with links to larger teaching JPEGs for classroom presentation

Question Drill for Human Genetics
Conceptual Vocabulary Self-Test

Basic Terms Crossword Puzzle

Basic Puzzle Solution

Conceptual Vocabulary
Genetic fingerprintingGenetic fingerprinting is a technique used to distinguish between individuals of the same species using only samples of their DNA, exploiting highly variable repeating sequences called minisatellites.
NondisjunctionNondisjunction is the failure of chromosome pairs to separate properly during meiosis or mitosis.
AneuploidyAneuploidy is a change in the number of chromosomes that can lead to a chromosomal disorder.
Widow's peakA widow's peak is a descending V-shaped point in the middle of the hairline. This is a dominant genetic trait.
AlbinismThe recessive trait albinism is a form of hypopigmentary congenital disorder, characterized by a lack of melanin pigment in the eyes, skin and hair. It is a recessive genetically inherited trait.
DimpleDimples are visible indentations of the skin, a dominant genetic trait which shows on some people's cheeks when they smile.
FreckleFreckles are small colored spots of melanin on the exposed skin. Having them is genetic and is related to the presence of the melanocortin-1 receptor MC1R gene variant, which is a dominant trait.
Down syndromeDown syndrome or trisomy 21 is a genetic disorder caused by the presence of all or part of an extra 21st chromosome.
Turner syndromeTurner syndrome encompasses several chromosomal abnormalities, of which monosomy X is the most common.
Klinefelter's syndromeKlinefelter's syndrome or XXY syndrome is a condition caused by a chromosome aneuploidy in which affected males have an extra X sex chromosome.
MinisatelliteA minisatellite is a section of DNA that consists of a short series of 10-100 bases. These types of sequences occur at more than 1000 locations in the human genome.
Chromosome 21Chromosome 21 is the smallest human chromosome.
Triple X syndromeTriple X syndrome is a form of chromosomal variation characterized by the presence of an extra X chromosome in each cell of a human female.
PhenylthiocarbamidePhenylthiocarbamide, also known as PTC, or phenylthiourea, is an organic compound which either tastes very bitter, or virtually tasteless, depending on the genetic makeup of the taster.
SexdactylySexadactyly or hexadactyly is dominant genetic condition in which a person has six fingers on one or both hands, or six toes on one or both feet.
Cri du chatCri du chat syndrome is due to a partial deletion of the short arm of chromosome number 5.
XYY syndromeXYY syndrome is an aneuploidy of the sex chromosomes in which a human male receives an extra Y chromosome.
BrachydactylyBrachydactyly is an inherited, usually dominant trait, which leads to shortness of the fingers and toes relative to the length of other long bones of the body.
Mitochondrial EveMitochondrial Eve is the name given by researchers to the woman who is defined as the matrilineal most recent common ancestor for all living humans.
Y-chromosomal AdamY-chromosomal Adam is the patrilineal human most recent common ancestor from whom all Y chromosomes in living men are descended.
MosaicismMosaicism denotes the presence of two populations of cells with different genotypes in one individual
Human mitochondrial DNA haplogroupA human mitochondrial DNA haplogroup is a large group of haplotypes defined by differences in human mitochondrial DNA.
Advanced terms that may appear in context in MCAT passages
Human Y-chromosome DNA haplogroupsHuman Y-chromosome DNA haplogroups are large groups of haplotypes defined by differences in the non-recombining portions of DNA from the Y chromosome.
Edwards syndromeTrisomy 18 or Edwards Syndrome is the most common trisomy after Down Syndrome.
Patau syndromePatau syndrome is a syndrome in which a patient has an additional chromosome 13.
Robertsonian translocationRobertsonian translocation is a common form of chromosomal rearrangement that occurs in the five acrocentric human chromosome pairs, namely 13, 14, 15, 21, and 22.
The Genographic ProjectThe Genographic Project is a five-year genetic study that aims to map historical human migration patterns by collecting and analyzing DNA samples from hundreds of thousands of people across five continents.
Uniparental disomyUniparental disomy occurs when a person receives two copies of a chromosome, or part of a chromosome, from one parent and no copies from the other parent.

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