X-linked intellectual disability
| X-linked intellectual disability | |
|---|---|
| Other names | X-linked mental retardation |
| Specialty | Neurology, medical genetics |
X-linked intellectual disability refers to medical disorders associated with X-linked recessive inheritance that result in intellectual disability.
As with most X-linked disorders, males are more heavily affected than females.[1] Females with one affected X chromosome and one normal X chromosome tend to have milder symptoms.
Unlike many other types of intellectual disability, the genetics of these conditions are relatively well understood.[2][3] It has been estimated there are ~200 genes involved in this syndrome; of these ~100 have been identified.[4] Many of these genes are found on the short 'p' arm of the chromosome, and duplications at Xp11.2 are associated with the syndromic form of the condition.[5][6]
X-linked intellectual disability accounts for ~16% of all cases of intellectual disability in males.[7]
- ^ "Fragile X Syndrome - X-linked Mental Retardation and Macroorchidism". International Birth Defect Information Systems. Retrieved 2010-12-10.
- ^ Ropers HH, Hamel BC (January 2005). "X-linked mental retardation". Nature Reviews. Genetics. 6 (1): 46–57. doi:10.1038/nrg1501. PMID 15630421. S2CID 427210.
- ^ Lugtenberg D, Veltman JA, van Bokhoven H (September 2007). "High-resolution genomic microarrays for X-linked mental retardation". Genetics in Medicine. 9 (9): 560–565. doi:10.1097/GIM.0b013e318149e647. PMID 17873643.
- ^ Stevenson RE, Schwartz CE (2009). "X-linked intellectual disability: unique vulnerability of the male genome". Developmental Disabilities Research Reviews. 15 (4): 361–368. doi:10.1002/ddrr.81. PMID 20014364.
- ^ "OMIM Entry - # 300705 - CHROMOSOME Xp11.22 DUPLICATION SYNDROME". omim.org. Retrieved 2018-03-09.
- ^ "Microduplication Xp11.22-p11.23 syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 2021-03-21. Retrieved 2018-03-09.
- ^ Stevenson RE, Schwartz CE (2009). "X-linked intellectual disability: unique vulnerability of the male genome". Developmental Disabilities Research Reviews. 15 (4): 361–368. doi:10.1002/ddrr.81. PMID 20014364.