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Abstract #5152 Published in IGR 1-2
X-linked mental retardation syndrome with short stature, small hands and feet, seizures, cleft palate, and glaucoma is linked to Xq28
Armfield K; Nelson R; Lubs HA; Hane B; Schroer RJ; Arena F; Schwartz CE; Stevenson REAmerican Journal of Medical Genetics 1999; 85: 236-242
Of the gene-rich regions of the human genome, Xq28 is the most densely mapped. Mutations of genes in this band are responsible for 10 syndromal forms of mental retardation and 5 nonsyndromal forms. Clinical and molecular studies reported here add an additional syndromic form of X-linked mental retardation (XLMR) to this region. The condition comprises short stature, small hands and feet, seizures, cleft palate, and glaucoma. One affected male died at age 19 years in status epilepticus, but others have survived to old age. Carrier females do not have somatic anomalies or mental impairment. The gene is localized to the terminal 8 Mb of Xq28 with markers distal to DXS8011 showing linkage to the disorder with a lod score of 2.11 at zero recombination.
Dr. C.E. Schwartz, J.C. Self Res. Inst. of Human Genet., Greenwood Genetic Center, One Gregor Mendel Circle, Greenwood, SC 29646; USA
Classification:
1.2 Population genetics (Part of: 1 General aspects)
