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| is defined as the gain of a single chromosome from a otherwise diploid nucleus (e.g. 47 chromosomes) |
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| defined as the gain of two chromosomes from a otherwise diploid nucleus (e.g. 48 chromosomes) |
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| is defined as the gain of two complete sets of chromosomes (e.g. 92 chromosome |
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| defined as the loss or gain of one or more chromosomes or chromosome parts but not a complete set of chromosomes |
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| common abnormality that is caused by the failure of replicated chromosomes to segregate. |
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| gamete with n-1 chromosome produces a monosomy offspring. |
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| defined as a genome containing one or more extra sets of chromosomes (e.g. 69, 92, or 115 chromosomes) |
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| defined as individuals with diploid number of chromosomes (e.g. 46 chromosomes –normal) |
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| defined as individuals with the correct number of chromosomes (complete chromosome sets) for that particular species |
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| defined as multiples of closely related genomes |
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| defined as the absence of a single chromosome from a otherwise diploid nucleus (e.g. 45 chromosomes) |
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| defined as the gain of a complete set of chromosomes (e.g. 69 |
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| 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. |
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| 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. |
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Definition
the predominantly transcriptionally inert X chromosome of females also known
Heavily methylated |
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Definition
| stern cells are totipotent where it can differentiate into any cell types. |
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| 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 |
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| defined as the area which a particular chromosome occupies and is separated from other chromosomes |
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| as the area between the chromosome which contains little or no DNA |
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| defined as inhibiting gene expression through the formation of nucleosomes. |
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Definition
| nucleosomes contain the normal (common) histone protein called histone H2A. |
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Term
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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. |
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Definition
| the addition or removal of an acetyl group upon the amino acid sequence of histone protein. |
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| histone acetyltransferase (HATs) |
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Definition
| add an acetyl group to the histone proteins |
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| mark the areas that need to be transcribed. |
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| histone deacetylases (HDACs) |
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Definition
| used to remove acetyl groups from histone proteins and thereby shutting down transcription of a particular gene |
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Definition
| This enzyme is recruited by repressors that shut off an area of the DNA to transcription. |
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Definition
| After the removal of the acetyl-group, an insulator elements which are composed of short DNA segments is added |
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| CCCTC-binding factor (CTCF) |
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Definition
| the only known insulator element found in vertebrates |
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| enzymatic phosphorlolation |
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Definition
| histone could be modified through the addition of phosphate (-PO4) |
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| These alterations are known as the histone code which could either activate genes or silence them. |
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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. |
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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. |
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Definition
| where the ovarian follicles present in fetal stage but disappears post-natal |
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Definition
| outwardly curvature of the elbows |
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| narrowing or coarctation of the aorta and the accumulation of lymphatic fluids at the feet, otherwise known as lymphedema |
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| as a person having two distinct genetic cell lines. |
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Definition
| a type of translocation that occurs between two non-homologous chromosomes |
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Definition
| short arm also known as p arm of both non-homologous chromosomes break off and reinsert themselves in each other’s places. |
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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. |
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Term
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Definition
| This translocation and attachment of the short arm to the non-homologous chromosome creates a large |
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Definition
| creations of these large chromosomes are accomplished through centric fusion where the two parts of non-homologous chromosomes fuses at the centromere. |
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Definition
| The remaining pieces of chromosomes that do not possess a centromere are called acentric fragments and are lost during meiosis. |
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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. |
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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 |
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Definition
| under developed thumbs or missing thumbs or hypoplasia |
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Definition
| missing the radius or otherwise known as radial aplasia |
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Definition
| Retinoblastoma is a tumor of the retina and could be inherited or isolated. |
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| osteosarcoma which is defined as a tumor of the mesenchyme. |
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Definition
| Prader-Willi syndrome is a condition that is caused by a deletion of the number 12 band; long are located on chromosome 15. |
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Definition
| under developed gonads or also known as hypogonadilsm |
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Term
| Wolf –Hirschhorn syndrome |
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Definition
| Wolf –Hirschhorn syndrome is are rare genetic disorder caused by the deletion of the short arm of the number 4 chromosome. |
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Definition
| a developed gap within the structures of the eyes also known as colobomas |
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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. |
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Definition
| Cri du chat syndrome is a rare genetic disorder due to a deleted portion of the short arm of chromosome 5. |
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Definition
| TERT which is used in the maintenance of the telomeres. |
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Definition
| Edward’s syndrome also known as Trisomy 18 is a chromosomal disorder caused by the presence of three, instead of two, chromosome 18. |
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Definition
| hypertonia which is defined as an abnormal increase in muscle strength |
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Definition
| Patau syndrome also known as trisomy 13 is a disease in which a patient possesses an additional number 13 chromosome. |
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Definition
| undivided (failure to separate) hemispheres of the brain also referred to as holoprosencephaly |
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Definition
| Sufferers of this condition have extremely small eyes that may exhibit a split in the iris which is also called coloboma |
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Definition
| hypotonia or weak muscle tone. |
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Term
De novo melodysplastic disorder
MDS |
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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. |
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Term
| Acute nonlymphocytic leukemia (ANILL) |
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Definition
| Acute nonlymphocytic leukemia (ANILL) is a condition where the leukocytes with the exception of lymphocytes do not completely mature. |
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Definition
| Klinefelter syndrome is a condition caused by sex chromosome non-disjunction. |
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Definition
| abnormally large mammary glands also known as gynecomastia |
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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. |
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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. |
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Term
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Definition
| mongolism which was referring to the perceived resemblance of condition to people of Asian descent. |
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Definition
| heavy skin folds of the eye lids which is also referred to as epicathic folds |
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Definition
| small cranium or microcephaly |
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Definition
| iris also known as brushfield spots |
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Definition
| undescended testicles or cryptorchidism |
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Definition
| straight palm prints (rather than a semicircle) also known as simian crease |
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Definition
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Definition
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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 |
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Term
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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 |
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Term
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Definition
| Intercalary deletion is defined as the loss of genetic materials away from the terminal ends of the chromosomes. |
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Term
| Chronic myelogenous leukemia |
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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 |
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Term
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Definition
| The deleted chromosome 22 is called a philadelphia chromosome where the deleted piece is transferred onto the q arm of 9th chromosome. |
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Definition
| abnormal mass of bone marrow tissue called neoplasia |
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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 |
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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 |
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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. |
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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. |
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Term
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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 |
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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. |
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Definition
| Trisomy 22 is the fifth most common cause of spontaneous abortion – approximately 5.7%. Live births associated with this condition is extremely rare. |
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Term
| Down syndrome (trisomy 21) |
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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 |
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Term
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Definition
| Trisomy 15 is the seventh most common cause of spontaneous abortion – approximately 4.2%. Live birth associated with this condition is extremely rare |
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Term
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Definition
| Trisomy 15 is the seventh most common cause of spontaneous abortion – approximately 4.2%. Live birth associated with this condition is extremely rare |
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Term
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Definition
| Trisomy 13 is the eighth most common cause of spontaneous abortions – approximately 3.7%. Live births associated with this condition is extremely rare. |
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Term
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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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