title: Familial X-linked mental retardation and isolated growth hormone deficiency: clinical and molecular findings.
abstract: We report on several members of a family with varying degrees of X-linked mental retardation (XLMR), isolated growth hormone deficiency (IGHD), and infantile behaviour but without other consistent phenotypic abnormalities. Male patients continued to grow until well into their twenties and reached a height ranging from 135 to 159 cm. Except one, all female carriers were mentally normal; their adult height ranged from 159 to 168 cm. By linkage studies we have assigned the underlying genetic defect to the Xq24-q27.3 region, with a maximum lod score of Z = 3.26 at theta = 0.0 for the DXS294 locus. The XLMR-IGHD phenotype in these patients may be due to pleiotropic effects of a single gene or it may represent a contiguous gene syndrome.
authors.affiliation: Department of Human Genetics, University Hospital, Nijmegen, The Netherlands.
authors.forename: B C
authors.initials: BC
authors.lastname: Hamel
authors.forename: A P
authors.initials: AP
authors.lastname: Smits
authors.forename: B J
authors.initials: BJ
authors.lastname: Otten
authors.forename: B
authors.initials: B
authors.lastname: van den Helm
authors.forename: H H
authors.initials: HH
authors.lastname: Ropers
authors.forename: E C
authors.initials: EC
authors.lastname: Mariman
mesh_terms: D000328:Adult; D000368:Aged; D002648:Child; D005260:Female; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D019382:Human Growth Hormone / Q000172:deficiency*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D014960:X Chromosome
chemical_list: D019382:Human Growth Hormone