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  2. DiGeorge syndrome - Wikipedia

    en.wikipedia.org/wiki/DiGeorge_syndrome

    DiGeorge syndrome is typically due to the deletion of 30 to 40 genes in the middle of chromosome 22 at a location known as 22q11.2. [3] About 90% of cases occur due to a new mutation during early development, while 10% are inherited. [7] It is autosomal dominant, meaning that only one affected chromosome is needed for the condition to occur. [7]

  3. Trisomy 22 - Wikipedia

    en.wikipedia.org/wiki/Trisomy_22

    That is, a fragment of chromosome 11 is moved, or translocated, to chromosome 22. 22q11 deletion syndrome [2] is a rare condition which occurs in about one in 4000 births. This condition is identified when a band in the q11.2 section of the arm of chromosome 22 is missing or deleted.

  4. Chromosome 22 - Wikipedia

    en.wikipedia.org/wiki/Chromosome_22

    The following conditions are caused by changes in the structure or number of copies of chromosome 22: 22q11.2 deletion syndrome: Most people with 22q11.2 deletion syndrome are missing about 3 million base pairs on one copy of chromosome 22 in each cell. The deletion occurs near the middle of the chromosome at a location designated as q11.2.

  5. 22q11.2 distal deletion syndrome - Wikipedia

    en.wikipedia.org/wiki/22q11.2_distal_deletion...

    22q11.2 distal deletion syndrome is a rare genetic condition caused by a tiny missing part of one of the body's 46 chromosomes – chromosome 22. 22q11.2 distal deletion syndrome appears to be a recurrent genomic disorder distinct from 22q11.2 deletion syndrome also known as DiGeorge syndrome (DGS; 188400) and velocardiofacial syndrome (VCFS; 192430).

  6. Wikipedia : Osmosis/DeGeorge Syndrome

    en.wikipedia.org/wiki/Wikipedia:Osmosis/DeGeorge...

    Which are essentially instructions for everything from development to day-to-day survival, and these genes are spread out across 23 pairs of chromosomes. 22q11.2 is like an address, so 22 stands for chromosome 22, with q designating the long arm of the chromosome, then it’s on region 1, band 1, and sub-band 2.

  7. 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).

  8. Opitz G/BBB syndrome - Wikipedia

    en.wikipedia.org/wiki/Opitz_G/BBB_Syndrome

    In some cases of autosomal dominant Opitz G/BBB syndrome, the disease is caused by a mutation in the SPECC1L gene (near the 22q11.2 gene), which helps make cytospin-A. Cytospin-A is a protein imperative to the formation of facial features and is often considered responsible for the cleft lip or palate that Opitz G/BBB syndrome patients will ...

  9. Cytogenetic notation - Wikipedia

    en.wikipedia.org/wiki/Cytogenetic_notation

    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 the end of the long arm of chromosome 2) tri: Trisomy: trp: Triplication of a portion of a chromosome