The clinical phenotype in institutionalised adult males with X-linked mental retardation (XLMR).

Abstract

In an institutionalised population of 471 mentally retarded adult residents (436 males and 35 females), 22 males (i.e. 5 % of the male population) had XLMR, accounting for 36.1 % of the residents diagnosed with a monogenic disorder (n = 61). Fragile X syndrome (FRAXA) was diagnosed in 16 residents, X-linked mental retardation with marfanoid habitus (Lujan-Fryns syndrome) in 2, and non-specific X-linked mental retardation (MRX) in 4 males. The 4 MRX-patients included 3 male sibs of a family, carrying a mutation in the IL-1 receptor accessory protein-like gene, and one male patient member of the MRX-44 family (linkage with LOD-score of 2.90). In the group of 215 males with idiopathic mental retardation (MR), family histories and pedigree data were compatible with XLMR in 35 males (35/215 = 16.3 %) from 32 families. Of these 35 males, 5.7 % were microcephalic with dysmorphic features and 5.7 % macrocephalic; micro-orchidism and macro-orchidism were each found in 11.4 %. One macrocephalic male had also macro-orchidism and dysmorphic features. In this study, the diagnosis of XLMR could thus be proposed in 57 males i.e. 13.1 % of the total male population. The clinical phenotype, behavioural problems and follow-up data in these different subgroups of XLMR are presented.

• Authors: G J Van Buggenhout, J C Trommelen, H G Brunner, B C Hamel, J Fryns
• Journal: Annales de genetique (Ann Genet) Vol. 44 Issue 1 Pg. 47-55 ( 2001) ISSN: 0003-3995 [Print] Netherlands
• PMID: 11334618 (Publication Type: Journal Article)

Topics

• Adult
• Congenital Abnormalities (genetics, physiopathology, psychology)
• Female
• Fragile X Syndrome (genetics)
• Hospitals, Psychiatric (statistics & numerical data)
• Humans
• Institutionalization (statistics & numerical data)
• Intellectual Disability (genetics, physiopathology, psychology)
• Male
• Netherlands
• Pedigree
• Phenotype
• Syndrome
• X Chromosome