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The most frequent reported symptoms in patients with 22q11.2 duplication syndrome are intellectual disability/learning disability (97% of patients), delayed psychomotor development (67% of patients), growth retardation (63% of patients) and muscular hypotonia (43% of patients). [1]
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 ]
22q11.2 duplication syndrome; 22q13 deletion syndrome; 2p15-16.1 microdeletion syndrome; 2q37 deletion syndrome; 3-M syndrome; 3C syndrome; 3q29 microdeletion syndrome;
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 ...
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).
The monitors could also help women with polycystic ovarian syndrome — a hormonal disorder that is often linked to infertility, weight problems and irregular or missed periods — avoid long-term ...
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.
Her DNA was scanned for 210 health markers, and as we saw in other tests, she carries one copy of the gene related to exercise-induced collapse syndrome. You need two copies to be at risk, but I ...