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  2. 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]

  3. 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).

  4. 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.

  5. Molecular cytogenetics - Wikipedia

    en.wikipedia.org/wiki/Molecular_cytogenetics

    Image: example of karyotyping showing a total of 46 chromosomes in the genome. Molecular cytogenetics combines two disciplines, molecular biology and cytogenetics, and involves the analysis of chromosome structure to help distinguish normal and cancer-causing cells. Human cytogenetics began in 1956 when it was discovered that normal human cells ...

  6. Chromosomal deletion syndrome - Wikipedia

    en.wikipedia.org/wiki/Chromosomal_deletion_syndrome

    One of them consists in micro-deletions of the chromosome region 15q11–q13. 70% of patients present a 5–7-Mb de novo deletion in the proximal region of the paternal chromosome 15. The second frequent genetic abnormality (~ 25–30% of cases) is maternal uniparental disomy of chromosome 15.

  7. Cytogenetic notation - Wikipedia

    en.wikipedia.org/wiki/Cytogenetic_notation

    Isodicentric chromosome (duplication & inversion of centromere-containing segment) ins: Insertion: inv: Inversion.ish: Precedes karyotype results from FISH analysis mar: Marker chromosome: mat: Maternally-derived chromosome rearrangement p: Short arm of a chromosome pat: Paternally-derived chromosome rearrangement psu dic: pseudo dicentric ...

  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. Karyotype - Wikipedia

    en.wikipedia.org/wiki/Karyotype

    In the case of an mFISH image, every combination of fluorochromes from the resulting original images is replaced by a pseudo color in a dedicated image analysis software. Thus, chromosomes or chromosome sections can be visualized and identified, allowing for the analysis of chromosomal rearrangements. [63]