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Genome
All genetic information contained in a cell.
Haploid cell
A cell that contains one complete set of chromosomes, approximately 3 billion base pairs.
Gene
The basic physical and functional unit of heredity that encodes for a protein or other product.
Karyotype
A picture of the chromosomes in an individual, arranged and classified.
Sister chromatids
Identical copies of a chromosome, joined together at the centromere.
Chromosomal abnormalities
Errors in chromosome number or structure which can result in genetic disorders.
Polyploidy
A condition where a cell has extra whole sets of chromosomes.
Aneuploidy
A condition of having an abnormal number of chromosomes, usually due to non-disjunction.
Translocation
The transfer of a chromosome segment to a non-homologous chromosome.
Mosaicism
A condition where two or more genetically different cell lines exist in a single individual. Comes form x-inactivation, or non-disjunction in mitosis somatic mutation
Independent assortment
The process by which different genes independently separate from one another when reproductive cells develop.
Meiosis
A type of cell division that reduces the chromosome number by half, resulting in the formation of gametes.
Autosomal recessive inheritance
A pattern where two copies of an abnormal gene must be present for the disease or trait to develop.
Barr bodies
Inactivated X chromosomes in females, typically one per female cell.
X-linked inheritance
A pattern of inheritance in which a gene is located on the X chromosome.
Mitochondrial inheritance
Genetic transmission through mitochondria, typically maternal, affecting all offspring.
Gene flow
The transfer of genetic variation from one population to another.
Microsatellites
Short, repetitive sequences of DNA that are highly variable and used as genetic markers.
Acrocentric chromosomes
Centromere toward the end of the chromosomes. Includes 13, 14, 15, 21, and 22
Mixoploidy
Two or more cell lineages mixed (mosaicism or chimerism)
Reciprocal translocation
Nothing is lost or gained as long as the breakpoint doesn’t disrupt function. Produces 2 complete chromosomes, they just don’t look how they’re supposed to
FiSH
Good for quick chromosome count and detection of known/suspected deletionsand duplications in specific regions.
Microarray analysis
A way to measure the quantity of a given sequence of DNA in a sample. Used to detect full or partial aneuploidy. Doesn’t work on translocation
Downs syndrome
Trisomy 21
Edward syndrome
Trisomy 18, partial or mosaic form may be milder
Turner syndrome
Monosomy X
Klinefelter syndrome
XXY syndrome
Translocation carrier
An individual who carrier a balanced chromosome translocation. Phenotypically normal, but have a high risk of miscarrying
Inherited translocation
Translocation carriers may pass the balanced (or unbalanced) form of a translocation onto their offspring
Autosomal reciprocal translocation
Exchange of segments between two non-homologous autosomal chromosomes. Balanced carriers are usually unaffected
Robertsonian translocation
Fusion of the long arms of two acrocentric chromosomes, the short arms are lost
Heterologous robertsonian
A robertsonian caused by the fusion of the q arms of two different acrocentric chromosomes
Homologous robertsonian
A robertsonian caused by the fusion of the q arms of two copies of the same chromosome
Autosomal recessive
Usually only one generation affected. Children of carriers at 25% risk, unaffected children have 66% chance of being a carrier. Includes cystic fibrosis and sickle cell anemia
Autosomal dominant
Affects multiple successive generations. Children of affected individuals are at 50% risk. Includes Huntington’s disease and Treacher Collins
X-linked
Multiple generations affected. Males more severely affected. All daughters of affected males will be carriers/affected. Includes hemophilia and red-green colorblindness
X-linked mosaicism
Which X (Maternal or paternal copy) is chosed for inactivation in an XX embryo is determined randomly and independently by each cell of the embryo. Once a cell has chosen which X to inactivate, that X remains inactive in all its daughter cells. Mosaicism makes it so that women will dometimes express diseased X
Y-linked
Only present in males, super rare. Includes spermatogenic failure
Mitochondrial inheritance
All children of an affected female will be affected. Significant variation in severity, but tends to get worse with each generation. Includes mitochondrial myopathy
Gonadal mosaicism
When the gamete population of an individual is mosaic for an allele. Can cause unaffected individual to have multiple children with an autosomal dominant condition
Chimerism
Mosaicism tha tis the result of an absorbed twin, bone marrow transplants, or it happens in pregnant women
Locus heterigeneuty
Same clinical phenotype from mutations at any one of several different loci
Allelic heterogeneity
Different mutations at the same locus result in the same clinical phenotype
Syndrome
A well-known pattern of anomalies beieved to have the same cause, often genetic/chromosomal but may be environmental. Ex: Achondroplasia (dwarfism)
Sequence
A group of related anomalies believed to be caused by a single major anomaly that alters the development of other structures. Ex: Oligohydramnios sequence (potters sequence)
Zellweger syndrome
Autosomal recessive disease caused by errors in peroxin genes (peroxisomes)
Epidermis bullosa
Extreme skin fragility