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

Annales de génétique
G J Van BuggenhoutJ P Fryns

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 diffe...Continue Reading

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Citations

Jul 13, 2006·Orphanet Journal of Rare Diseases·Griet Van Buggenhout, Jean-Pierre Fryns
Oct 13, 2006·American Journal of Medical Genetics. Part a·Ivan Lerma-CarrilloFrancisco Lopez-Muñoz
Jul 20, 2007·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Stephanie N MavesKevin D Josephson

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