Non-specific X linked mental retardation with aphasia exhibiting genetic linkage to chromosomal region Xp 1l

Abstract

A new type of non-specific X linked mental retardation is described in a three generation family. The three affected males had severe mental retardation (IQ 20 to 30), mutism, growth failure, frequent infections, seizures, and the following minor anomalies: brachycephaly, frontal hair whorl, square face, large mouth, thick lips, and prognathism. There was not a characteristic facies. Normal laboratory studies on the proband included a karyotype with fragile X screening, skeletal survey, blood amino acid, urine organic acid, and HGPRT levels. Linkage analysis was performed with 10 X chromosome DNA probes of which probe DXS255at chromosomal region Xpll.22 gave a maximal two point lod score of 2-10 if phase was inferred and 1-20 if it was not. Crossovers were shown with probes mapping to regions Xp22, Xp2l, and Xq28. Comparison of these patients with 80 X linked causes of mental retardation, including 41 which might be classified as 'non-specific', showed no other disorders compatible with the phenotypic and linkage data.