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  2. 18p- - Wikipedia

    en.wikipedia.org/wiki/18p-

    18p-, also known as monosomy 18p, deletion 18p syndrome, del(18p) syndrome, partial monosomy 18p, or de Grouchy syndrome 1, is a genetic condition caused by a deletion of all or part of the short arm (the p arm) of chromosome 18. It occurs in about 1 of every 50,000 births.

  3. Distal 18q- - Wikipedia

    en.wikipedia.org/wiki/Distal_18q-

    Specialty. Medical genetics. Distal 18q- is a genetic condition caused by a deletion of genetic material within one of the two copies of chromosome 18. [1] The deletion involves the distal section of 18q and typically extends to the tip of the long arm of chromosome 18. [2]

  4. Chromosome 18 - Wikipedia

    en.wikipedia.org/wiki/Chromosome_18

    The following is a partial list of genes on human chromosome 18. For complete list, see the link in the infobox on the right. ... Tetrasomy 18p; Monosomy 18p; Pitt ...

  5. Small supernumerary marker chromosome - Wikipedia

    en.wikipedia.org/wiki/Small_supernumerary_marker...

    Genetic counseling of carriers. A small supernumerary marker chromosome ( sSMC) is an abnormal extra chromosome. It contains copies of parts of one or more normal chromosomes and like normal chromosomes is located in the cell's nucleus, is replicated and distributed into each daughter cell during cell division, and typically has genes which may ...

  6. 13q deletion syndrome - Wikipedia

    en.wikipedia.org/wiki/13q_deletion_syndrome

    13q deletion syndrome is a rare genetic disease caused by the deletion of some or all of the large arm of human chromosome 13. Depending upon the size and location of the deletion on chromosome 13, the physical and mental manifestations will vary. It has the potential to cause intellectual disability and congenital malformations that affect a ...

  7. Monosomy - Wikipedia

    en.wikipedia.org/wiki/Monosomy

    Monosomy. Schematic karyogram of a human, showing the normal diploid karyotype. It shows annotated bands and sub-bands as used for the nomenclature of chromosome abnormalities including partial monosomies. It shows 22 homologous chromosomes, both the female (XX) and male (XY) versions of the sex chromosome (bottom right), as well as the ...

  8. Aneuploidy - Wikipedia

    en.wikipedia.org/wiki/Aneuploidy

    Specialty. Medical genetics. Aneuploidy is the presence of an abnormal number of chromosomes in a cell, for example a human cell having 45 or 47 chromosomes instead of the usual 46. [1] [2] It does not include a difference of one or more complete sets of chromosomes. A cell with any number of complete chromosome sets is called a euploid cell.

  9. Isochromosome - Wikipedia

    en.wikipedia.org/wiki/Isochromosome

    Isochromosome in which the arms are mirror copies of each other. An isochromosome is an unbalanced structural abnormality in which the arms of the chromosome are mirror images of each other. [1] The chromosome consists of two copies of either the long (q) arm or the short (p) arm because isochromosome formation is equivalent to a simultaneous ...