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22q11.2 duplication syndrome is a rare genetic disorder caused by a duplication of a segment at the end of chromosome 22. Presentation. The most frequent reported ...
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 ]
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.
22q11.2 duplication syndrome; 22q13 deletion syndrome; 2p15-16.1 microdeletion syndrome; 2q37 deletion syndrome; 3-M syndrome; 3C syndrome; 3q29 microdeletion syndrome;
Misalignment of LCRs during non-allelic homologous recombination (NAHR) [3] is an important mechanism underlying the chromosomal microdeletion disorders as well as their reciprocal duplication partners. [4] Many LCRs are concentrated in "hotspots", such as the 17p11-12 region, 27% of which is composed of LCR sequence.
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).
22q11.2 duplication syndrome; D. Distal trisomy 10q; S. Syndactyly-nystagmus syndrome due to 2q31.1 microduplication; T. Tetrasomy 18p This page was last edited on 8 ...
1q21.1 duplication syndrome arises from microduplications of the BP3-BP4 region, containing at least seven genes and a minimum duplicated region of ~1.2 Mb of unique DNA sequence. [ 7 ] 1q21.1 duplication syndrome has an autosomal dominant inheritance pattern, where 18–50% of deletions happen de novo and 50–82% are inherited from their parents.