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  2. Molecular cytogenetics - Wikipedia

    en.wikipedia.org/wiki/Molecular_cytogenetics

    FISH chromosome in-situ hybridization allows the study cytogenetics in pre- and postnatal samples and is also widely used in cytogenetic testing for cancer. While cytogenetics is the study of chromosomes and their structure, cytogenetic testing involves the analysis of cells in the blood, tissue, bone marrow, or fluid to identify changes in ...

  3. Fluorescence in situ hybridization - Wikipedia

    en.wikipedia.org/wiki/Fluorescence_in_situ...

    FISH on sperm cells is indicated for men with an abnormal somatic or meiotic karyotype as well as those with oligozoospermia, since approximately 50% of oligozoospermic men have an increased rate of sperm chromosome abnormalities. [27] The analysis of chromosomes 21, X, and Y is enough to identify oligozoospermic individuals at risk. [27]

  4. Cytogenetic notation - Wikipedia

    en.wikipedia.org/wiki/Cytogenetic_notation

    Marker chromosome: mat: Maternally-derived chromosome rearrangement p: Short arm of a chromosome pat: Paternally-derived chromosome rearrangement psu dic: pseudo dicentric – only one centromere in a dicentric chromosome is active q: Long arm of a chromosome r: Ring chromosome t: Translocation: ter: Terminal end of arm (e.g. 2qter refers to ...

  5. Microdeletion syndrome - Wikipedia

    en.wikipedia.org/wiki/Microdeletion_syndrome

    Twins in Poland with 22q11 microdeletion syndrome. A microdeletion syndrome is a syndrome caused by a chromosomal deletion smaller than 5 million base pairs (5 Mb) spanning several genes that is too small to be detected by conventional cytogenetic methods or high resolution karyotyping (2–5 Mb).

  6. Q-FISH - Wikipedia

    en.wikipedia.org/wiki/Q-FISH

    Quantitative Fluorescent in situ hybridization (Q-FISH) is a cytogenetic technique based on the traditional FISH methodology. In Q-FISH, the technique uses labelled (Cy3 or FITC) synthetic DNA mimics called peptide nucleic acid (PNA) oligonucleotides to quantify target sequences in chromosomal DNA using fluorescent microscopy and analysis software.

  7. Polysomy - Wikipedia

    en.wikipedia.org/wiki/Polysomy

    Trisomy 21 – Down syndrome, an example of a polysomy at chromosome 21. Polysomy is a condition found in many species, including fungi, plants, insects, and mammals, in which an organism has at least one more chromosome than normal, i.e., there may be three or more copies of the chromosome rather than the expected two copies. [1]

  8. List of genetic disorders - Wikipedia

    en.wikipedia.org/wiki/List_of_genetic_disorders

    The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.

  9. Chromosome abnormality - Wikipedia

    en.wikipedia.org/wiki/Chromosome_abnormality

    A karyotype of an individual with trisomy 21, showing three copies of chromosome 21. An abnormal number of chromosomes is known as aneuploidy, and occurs when an individual is either missing a chromosome from a pair (resulting in monosomy) or has more than two chromosomes of a pair (trisomy, tetrasomy, etc.).