%300047
Table of Contents
Cytogenetic location: Xp11-q21 Genomic coordinates (GRCh38): X:37,800,001-99,100,000
Impaired mental functioning occurs as an isolated feature or as part of many syndromes listed in the X-linked catalog. Impaired intellectual development that is not associated with other distinguishing features is referred to as 'nonspecific.'
The Human Gene Mapping Nomenclature Committee (Mulley et al., 1992) proposed to designate each newly reported apparently unique X-linked mental retardation (MRX) family with gene symbols (e.g., MRX1, MRX2) if a minimal lod score of 2.0 was demonstrated between the MR locus and one or more X chromosome markers.
Lazzarini et al. (1995) reported a family with MRX20. Fragile X syndrome was excluded cytogenetically and by absence of linkage to the Xq27.3 region. On the other hand, linkage studies using short tandem repeat polymorphism (STRP) markers indicated that the mutation is at a locus in the centromeric region of the X chromosome.
Lazzarini, A., Stenroos, E. S., Lehner, T., McKoy, V., Gold, B., McCormack, M. K., Reid, C. S., Ott, J., Johnson, W. G. Short tandem repeat polymorphism linkage studies in a new family with X-linked mental retardation (MRX20). Am. J. Med. Genet. 57: 552-557, 1995. [PubMed: 7573127, related citations] [Full Text]
Mulley, J., Kerr, B., Stevenson, R., Lubs, H. Nomenclature guidelines for X-linked mental retardation. Am. J. Med. Genet. 43: 383-391, 1992. [PubMed: 1605216, related citations] [Full Text]
Alternative titles; symbols
ORPHA: 777; DO: 0112023;
Cytogenetic location: Xp11-q21 Genomic coordinates (GRCh38): X:37,800,001-99,100,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| Xp11-q21 | Intellectual developmental disorder, X-linked 20 | 300047 | X-linked | 2 |
Impaired mental functioning occurs as an isolated feature or as part of many syndromes listed in the X-linked catalog. Impaired intellectual development that is not associated with other distinguishing features is referred to as 'nonspecific.'
The Human Gene Mapping Nomenclature Committee (Mulley et al., 1992) proposed to designate each newly reported apparently unique X-linked mental retardation (MRX) family with gene symbols (e.g., MRX1, MRX2) if a minimal lod score of 2.0 was demonstrated between the MR locus and one or more X chromosome markers.
Lazzarini et al. (1995) reported a family with MRX20. Fragile X syndrome was excluded cytogenetically and by absence of linkage to the Xq27.3 region. On the other hand, linkage studies using short tandem repeat polymorphism (STRP) markers indicated that the mutation is at a locus in the centromeric region of the X chromosome.
Lazzarini, A., Stenroos, E. S., Lehner, T., McKoy, V., Gold, B., McCormack, M. K., Reid, C. S., Ott, J., Johnson, W. G. Short tandem repeat polymorphism linkage studies in a new family with X-linked mental retardation (MRX20). Am. J. Med. Genet. 57: 552-557, 1995. [PubMed: 7573127] [Full Text: https://doi.org/10.1002/ajmg.1320570407]
Mulley, J., Kerr, B., Stevenson, R., Lubs, H. Nomenclature guidelines for X-linked mental retardation. Am. J. Med. Genet. 43: 383-391, 1992. [PubMed: 1605216] [Full Text: https://doi.org/10.1002/ajmg.1320430159]
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