X-linked mental retardation syndrome with short stature, small hands and feet, seizures, cleft palate, and glaucoma is linked to Xq28

Of the gene-rich regions of the human genome, Xq28 is the most densely mapp ed. Mutations of genes in this band are responsible for 10 syndromal forms of mental retardation and 5 nonsyndromal forms. Clinical and molecular stud ies reported here add an additional syndromic form of X-linked mental retar dation (XLMR) to this region. The condition comprises short stature, small hands and feet, seizures, cleft palate, and glaucoma, One affected male die d at age 19 years in status epilepticus, but others have survived to old ag e. 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 DXS80 11 showing linkage to the disorder with a lod score of 2.11 at zero recombi nation. An, J, Med. Genet. 85:236-242, 1999. (C) 1999 Wiley-Liss, Inc.