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Biol 3200 test 4
Trisomy
96
Biology
Undergraduate 4
11/21/2011

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Term
Trisomy
Definition
is defined as the gain of a single chromosome from a otherwise diploid nucleus (e.g. 47 chromosomes)
Term
Tetrasomy
Definition
defined as the gain of two chromosomes from a otherwise diploid nucleus (e.g. 48 chromosomes)
Term
Tetraploid
Definition
is defined as the gain of two complete sets of chromosomes (e.g. 92 chromosome
Term
Aneuplodity
Definition
defined as the loss or gain of one or more chromosomes or chromosome parts but not a complete set of chromosomes
Term
Nondisjunction
Definition
common abnormality that is caused by the failure of replicated chromosomes to segregate.
Term
monosomy
Definition
gamete with n-1 chromosome produces a monosomy offspring.
Term
Polyploidy
Definition
defined as a genome containing one or more extra sets of chromosomes (e.g. 69, 92, or 115 chromosomes)
Term
Disomy
Definition
defined as individuals with diploid number of chromosomes (e.g. 46 chromosomes –normal)
Term
Euploid
Definition
defined as individuals with the correct number of chromosomes (complete chromosome sets) for that particular species
Term
Allopolyploidy
Definition
defined as multiples of closely related genomes
Term
Monosomy
Definition
defined as the absence of a single chromosome from a otherwise diploid nucleus (e.g. 45 chromosomes)
Term
Triploid
Definition
defined as the gain of a complete set of chromosomes (e.g. 69
Term
cytosine
Definition
The DNA of most eukaryotic organisms can be modified after DNA replication. These modifications occur through enzyme mediated addition of methyl groups directly to bases or sugars. This process of methyl group addition is called DNA methylation (-CH3) and this process generally often involves the nucleotide cytosine.
Term
the CpG islands
Definition
composed of the sequence GGGCGG or its reverse complement CCGCCC. This heavily methylated site is considered to be one of the promoters found within the DNA.
Term
barr body
Definition
the predominantly transcriptionally inert X chromosome of females also known
Heavily methylated
Term
totipotent
Definition
stern cells are totipotent where it can differentiate into any cell types.
Term
unipotent
Definition
fetus develops and the genome of the individual’s cells is methylated, the DNA will only allow the cell to become a unipotent cell. Put simply, much of the cellular genome is methylated (covered) and rendered inert. Only the areas that are needed for that one particular cell type to survive are left open
Term
chromosome territory
Definition
defined as the area which a particular chromosome occupies and is separated from other chromosomes
Term
interchromosomal domains
Definition
as the area between the chromosome which contains little or no DNA
Term
gene silencing
Definition
defined as inhibiting gene expression through the formation of nucleosomes.
Term
histone H2A.
Definition
nucleosomes contain the normal (common) histone protein called histone H2A.
Term
histone H2A.Z
Definition
genes that are ready to be transcribed, two specialized histone proteins called histone H2A.Z are flank (surround the promoter region from the sides) the promoter region of the gene.
Term
acetylation
Definition
the addition or removal of an acetyl group upon the amino acid sequence of histone protein.
Term
histone acetyltransferase (HATs)
Definition
add an acetyl group to the histone proteins
Term
activators
Definition
mark the areas that need to be transcribed.
Term
histone deacetylases (HDACs)
Definition
used to remove acetyl groups from histone proteins and thereby shutting down transcription of a particular gene
Term
repressors
Definition
This enzyme is recruited by repressors that shut off an area of the DNA to transcription.
Term
insulator elements
Definition
After the removal of the acetyl-group, an insulator elements which are composed of short DNA segments is added
Term
CCCTC-binding factor (CTCF)
Definition
the only known insulator element found in vertebrates
Term
enzymatic phosphorlolation
Definition
histone could be modified through the addition of phosphate (-PO4)
Term
enzymatic methylation
Definition
Addition do methyl group
Term
histone code
Definition
These alterations are known as the histone code which could either activate genes or silence them.
Term
SWI/SNF complex
Definition
remodeling is done through remodeling complexes. One of the examples of these remodeling complexes is the SWI/SNF complex which is found in most eukaryotic organisms. This complex loosens the attachment between histone protein and DNA and exposing desired regions on the DNA.
Term
Turner syndrome
Definition
XO is a condition caused by sex-chromosome nondisjunction resulting in a female having only one X chromosome. Individuals suffering from this condition are known to be functionally normal, although in most cases they are sexually underdeveloped and sterile.
Term
sexual infantilism
Definition
where the ovarian follicles present in fetal stage but disappears post-natal
Term
cubitus valgus
Definition
outwardly curvature of the elbows
Term
coarctation
Definition
Narrowing of aorta
Term
lymphedema
Definition
narrowing or coarctation of the aorta and the accumulation of lymphatic fluids at the feet, otherwise known as lymphedema
Term
mosaic
Definition
as a person having two distinct genetic cell lines.
Term
Reciprocal translocation
Definition
a type of translocation that occurs between two non-homologous chromosomes
Term
p arm
Definition
short arm also known as p arm of both non-homologous chromosomes break off and reinsert themselves in each other’s places.
Term
acrocentric chromosomes
Definition
Reciprocal translocation is a type of translocation that occurs between two non-homologous chromosomes. Generally, the short arm also known as p arm of both non-homologous chromosomes break off and reinsert themselves in each other’s places. The chromosomes that are involved in this form of translocation known as acrocentric chromosomes which includes chromosomes 13, 14, 15, 21 or 22.
Term
metacentric chromosome.
Definition
This translocation and attachment of the short arm to the non-homologous chromosome creates a large
Term
centric fusion
Definition
creations of these large chromosomes are accomplished through centric fusion where the two parts of non-homologous chromosomes fuses at the centromere.
Term
acentric fragments
Definition
The remaining pieces of chromosomes that do not possess a centromere are called acentric fragments and are lost during meiosis.
Term
Fanconi anemia
Definition
Fanconi anemia is a condition caused by excess chromosomes instability where these patient’s chromosomes are easily broken as demonstrated in laboratory conditions through the introduction of UV light. This condition could be passed down hereditarily as an autosomal recessive disease.
Term
pancytopenia
Definition
Most patients suffering from this condition demonstrates the lack of blood cells (red, white blood cell and platelets) which is also referred to as pancytopenia
Term
hypoplasia
Definition
under developed thumbs or missing thumbs or hypoplasia
Term
radial aplasia
Definition
missing the radius or otherwise known as radial aplasia
Term
Retinoblastoma
Definition
Retinoblastoma is a tumor of the retina and could be inherited or isolated.
Term
osteosarcoma
Definition
osteosarcoma which is defined as a tumor of the mesenchyme.
Term
Prader-Willi syndrome
Definition
Prader-Willi syndrome is a condition that is caused by a deletion of the number 12 band; long are located on chromosome 15.
Term
hypogonadilsm
Definition
under developed gonads or also known as hypogonadilsm
Term
Wolf –Hirschhorn syndrome
Definition
Wolf –Hirschhorn syndrome is are rare genetic disorder caused by the deletion of the short arm of the number 4 chromosome.
Term
colobomas
Definition
a developed gap within the structures of the eyes also known as colobomas
Term
hypospadias
Definition
deformed opening of the urethra called hypospadias which is signified by the opening of the urethra on the posterior side of the penis rather than the at the center of glans penis.
Term
Cri du chat syndrome
Definition
Cri du chat syndrome is a rare genetic disorder due to a deleted portion of the short arm of chromosome 5.
Term
TERT
Definition
TERT which is used in the maintenance of the telomeres.
Term
Edward’s syndrome
Definition
Edward’s syndrome also known as Trisomy 18 is a chromosomal disorder caused by the presence of three, instead of two, chromosome 18.
Term
hypertonia
Definition
hypertonia which is defined as an abnormal increase in muscle strength
Term
Patau syndrome
Definition
Patau syndrome also known as trisomy 13 is a disease in which a patient possesses an additional number 13 chromosome.
Term
holoprosencephaly
Definition
undivided (failure to separate) hemispheres of the brain also referred to as holoprosencephaly
Term
coloboma
Definition
Sufferers of this condition have extremely small eyes that may exhibit a split in the iris which is also called coloboma
Term
hypotonia
Definition
hypotonia or weak muscle tone.
Term
De novo melodysplastic disorder
MDS
Definition
de novo myelodysplastic disorder (MDS) is also known as pre-leukemia where the bone marrow does not function normally and not enough normal blood cells (leukocytes and erythrocytes) are created.
Term
Acute nonlymphocytic leukemia (ANILL)
Definition
Acute nonlymphocytic leukemia (ANILL) is a condition where the leukocytes with the exception of lymphocytes do not completely mature.
Term
Klinefelter syndrome
Definition
Klinefelter syndrome is a condition caused by sex chromosome non-disjunction.
Term
gynecomastia
Definition
abnormally large mammary glands also known as gynecomastia
Term
Trisomy X
Definition
Trisomy X (47 XXX) is a condition caused by human sex chromosome nondisjunction resulting in a female possessing multiple X chromosomes. This condition occurs in 1 out of 1000 births and individuals with this genotype generally display no phenotypical problems and developed as normal females. Unfortunately people suffering from this condition also suffers from a high rate of spontaneous abortions (in utero) or have a high percentage of giving birth to individuals suffering from other chromosome nondisjunction conditions.
Term
Jacob’s syndrome
Definition
Jacob’s syndrome (47 XXY) is a condition also known as criminal gene. This condition occurs in 1 out of 1000 individuals and was used as a successful criminal defense tactic for Richard Speck, a serial killer.
Down’s syndrome (47 XX, XY +21) is a condition caused by human autosomal non-disjunction associated with the 21st chromosome. This condition was first known as mongolism which was referring to the perceived resemblance of condition to people of Asian descent.
Term
mongolism
Definition
mongolism which was referring to the perceived resemblance of condition to people of Asian descent.
Term
epicathic folds
Definition
heavy skin folds of the eye lids which is also referred to as epicathic folds
Term
microcephaly
Definition
small cranium or microcephaly
Term
brushfield spots
Definition
iris also known as brushfield spots
Term
cryptorchidism
Definition
undescended testicles or cryptorchidism
Term
simian crease
Definition
straight palm prints (rather than a semicircle) also known as simian crease
Term
concordance
Definition
monozygotic twins
Term
discordance
Definition
dizygotic twins.
Term
Terminal deletion
Definition
Terminal deletion is defined as the loss of a large segment of genetic material from the ends pf either the long or short arm of the chromosome
Term
Segmental deletion
Definition
Segmental deletion is defined as the loss of a small segment of genetic material from the ends of either the long or short arm of the chromosome
Term
Intercalary deletion
Definition
Intercalary deletion is defined as the loss of genetic materials away from the terminal ends of the chromosomes.
Term
Chronic myelogenous leukemia
Definition
Chronic myelogenous leukemia is a condition that is generally the result of a reciprocal translocation between 22q and 9q (9q; 22q). The deleted chromosome 22
Term
philadelphia chromosome
Definition
The deleted chromosome 22 is called a philadelphia chromosome where the deleted piece is transferred onto the q arm of 9th chromosome.
Term
neoplasia
Definition
abnormal mass of bone marrow tissue called neoplasia
Term
Small cell carcinoma
Definition
Small cell carcinoma is a cancer resulting from the deletion or translocation of a segment of chromosome 3 (p14-23). This condition is also called “oat cell carcinoma” and only 5% of patients suffering from this condition lives 5 years or longer
Term
Aniridia –Wilms tumor
Definition
Aniridia –Wilms tumor is a malignant tumor of the kidneys generally occur in prenatal and in children. It is known that p15 band located on chromosome 11 has been deleted
Term
Turner syndrome
Definition
Turner syndrome is the most common cause of spontaneous abortions – approximately 18%. Only 1 in 10,000 live births occurs with this condition while approximately 99% are aborted spontaneously.
Term
Triploid
Definition
Triploid is the second most common cause of spontaneous abortions – approximately 17%. Extremely few are born alive and manage to survive for a few months.
Term
Trisomy 16
Definition
Trisomy 16 is the third most common cause of spontaneous abortions – approximately 16.4%. It is known that there have never been a live birth associated with this condition
Term
Tetraploid
Definition
Tetraploid is the fourth most common cause of spontaneous abortion – approximately 6%. It is known that there has never been a live birth associated with this condition.
Term
Trisomy 22
Definition
Trisomy 22 is the fifth most common cause of spontaneous abortion – approximately 5.7%. Live births associated with this condition is extremely rare.
Term
Down syndrome (trisomy 21)
Definition
Down syndrome (trisomy 21) is the sixth most common cause of spontaneous abortions – approximately 4.7%. It is estimated that 1 out of 800 live births have this condition
Term
Trisomy 15 is
Definition
Trisomy 15 is the seventh most common cause of spontaneous abortion – approximately 4.2%. Live birth associated with this condition is extremely rare
Term
Trisomy 15 is
Definition
Trisomy 15 is the seventh most common cause of spontaneous abortion – approximately 4.2%. Live birth associated with this condition is extremely rare
Term
Trisomy 13
Definition
Trisomy 13 is the eighth most common cause of spontaneous abortions – approximately 3.7%. Live births associated with this condition is extremely rare.
Term
Trisomy 18
Definition
Trisomy 18 is the ninth most common cause of spontaneous abortions – approximately 3%. It is estimated that 1 in 8000 newborns have this condition. Translocation is tied at the ninth most common cause of spontaneous abortions – approximately 3
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