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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. 22q11.2 duplication syndrome - Wikipedia

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

    Medical genetics 22q11.2 duplication syndrome is a rare genetic disorder caused by a duplication of a segment at the end of chromosome 22. Presentation The ...

  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. 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. This portion of dna, 22q11.2 ...

  6. 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).

  7. Trisomy 22 - Wikipedia

    en.wikipedia.org/wiki/Trisomy_22

    22q11 microduplication syndrome [3] is the opposite of the 22q11 deletion syndrome; in this condition, a band of q.11.2 section of chromosome 22 is duplicated. Individuals carrying this deficiency are relatively "normal", as in they do not possess any major birth defects or major medical illnesses.

  8. 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).

  9. 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 ...