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  2. 22q13 deletion syndrome - Wikipedia

    en.wikipedia.org/wiki/22q13_deletion_syndrome

    22q13 deletion syndrome, known as Phelan–McDermid syndrome (PMS), is a genetic disorder caused by deletions or rearrangements on the q terminal end (long arm) of chromosome 22. Any abnormal genetic variation in the q13 region that presents with significant manifestations ( phenotype ) typical of a terminal deletion may be diagnosed as 22q13 ...

  3. SHANK3 - Wikipedia

    en.wikipedia.org/wiki/SHANK3

    SH3 and multiple ankyrin repeat domains 3 (Shank3), also known as proline-rich synapse-associated protein 2 (ProSAP2), is a protein that in humans is encoded by the SHANK3 gene on chromosome 22. [5] Additional isoforms have been described for this gene but they have not yet been experimentally verified.

  4. Chromosome 22 - Wikipedia

    en.wikipedia.org/wiki/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. This region contains about 30 genes, but many of these genes have not been well characterized.

  5. Trisomy 22 - Wikipedia

    en.wikipedia.org/wiki/Trisomy_22

    This microduplication is more common than the deletion; this might relate to the milder phenotype of the individuals. 22q13 deletion syndrome (Phelan–McDermid syndrome) [4] is a condition caused by the deletion of the tip of the q arm on chromosome 22. Most individuals with this disorder experience cognitive delays, low muscle tone, and ...

  6. DiGeorge syndrome - Wikipedia

    en.wikipedia.org/wiki/DiGeorge_syndrome

    DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. [7] While the symptoms can vary, they often include congenital heart problems , specific facial features, frequent infections, developmental disability , intellectual disability and cleft palate . [ 7 ]

  7. List of OMIM disorder codes - Wikipedia

    en.wikipedia.org/wiki/List_of_OMIM_disorder_codes

    This is a list of disorder codes in the Online Mendelian Inheritance in Man (OMIM) database. These are diseases that can be inherited via a Mendelian genetic mechanism. OMIM is one of the databases housed in the U.S. National Center for Biotechnology Information.

  8. Category:Autosomal monosomies and deletions - Wikipedia

    en.wikipedia.org/wiki/Category:Autosomal...

    1p36 deletion syndrome; 2p15-16.1 microdeletion syndrome; 2q37 monosomy; 3p deletion syndrome; 3q29 microdeletion syndrome; 9q34.3 deletion syndrome; 10q26 deletion; 16p11.2 deletion syndrome; 17q12 microdeletion syndrome; 18p-22q11.2 distal deletion syndrome; 22q13 deletion syndrome

  9. List of genetic disorders - Wikipedia

    en.wikipedia.org/wiki/List_of_genetic_disorders

    1p36 deletion syndrome: 1 D 1:7,500 1q21.1 deletion syndrome: 1q21.1 D 2q37 deletion syndrome: 2q37 D 5q deletion syndrome: 5q D 5,10-methenyltetrahydrofolate synthetase deficiency: MTHFS [2] 7p22.1 microduplication syndrome: 7p22.1 17q12 microdeletion syndrome: 17q12 [3] [4] 1:14,000-62,500 17q12 microduplication syndrome: 17q12 [5] 18p ...