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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 ...
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 ...
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 ]
22q13 deletion syndrome Other chromosomal conditions: Other changes in the number or structure of chromosome 22 can have a variety of effects, including intellectual disability, delayed development, physical abnormalities, and other medical problems.
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
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).
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 ...
The deletion (-68bp) resulted in reduction of the full length SHANK3a protein. [16] It is unclear if the expression of other isoforms (b and c) of SHANK3 is affected in this rodent model. The shank3 mutant rats have deficits in long-term social recognition memory but not short-term social recognition memory as well as deficits in attention. [16]