International workshop on the fragile X and X‐linked mental retardation

Opitz, John M.; Sutherland, Grant R.

doi:10.1002/ajmg.1320170103

Cited by 124 publications

(35 citation statements)

References 197 publications

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“…Recent surveys [Opitz and Sutherland, 1984;Arena and Lubs, 1991;Neri et al, 19911 list an additional 20 conditions with X-linked mental retardation; most have been described in single families and have not been assigned a McKusick number. Many of these X-linked diseases have distinctive dysmorphogenetic or metabolic findings which provide easy clinical delineation.…”

Section: Discussionmentioning

confidence: 98%

Clasped‐thumb mental retardation (MASA) syndrome: Confirmation of linkage to Xq28

Macias¹,

Day²,

King

et al. 1992

Am. J. Med. Genet.

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We describe a 5-generation Hispanic family with 13 males and 1 female affected with MASA syndrome. The proposita, a 17-year-old female, and her affected male relatives shared many of the cognate manifestations--mental retardation (14/14), aphasia or delayed speech (13/13), shuffling gait (8/13), adduction of thumbs (14/14)--as well as scoliosis (2/13) and increased deep tendon reflexes in the lower extremities (10/13). Southern analysis with the polymorphic DNA probes DXS14 (Xp11), DXS72 (Xq21), and F8C (Xq28) confirmed linkage to the Xq28 region with a maximum lod score of 3.01 for this family.

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Section: Discussionmentioning

confidence: 98%

Clasped‐thumb mental retardation (MASA) syndrome: Confirmation of linkage to Xq28

Macias¹,

Day²,

King

et al. 1992

Am. J. Med. Genet.

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“…The incidence of the fragile X syndrome (Martin-Bell syndrome, X-linked mental retardation with macro-orchidism and fragile site at Xp27/8) has been estimated to be 0.1-0.9 per 1000 males [7,10,25,30,32]. Thus, the fragile X syndrome may be second to Down's syndrome as a major genetic cause of mental retardation in males.…”

Section: Introductionmentioning

confidence: 96%

Developmental and behavioural disturbances in 13 boys with fragile X syndrome

Largo

Schinzel

1985

Eur J Pediatr

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Developmental and behavioural aspects were studied in 13 boys aged 2.6-12.5 years from three families with the fragile X syndrome. The following observations were made. Moderate to severe retardation was present in all boys; non-verbal IQs ranged between 25 and 67 (mean 46 +/- 14); IQ and age were negatively correlated (P less than 0.01). Language development was grossly delayed in all boys; most had severe articulation problems. Imitative and symbolic play (e.g. doll play) were strikingly retarded as compared to abstract play (e.g. block design). Autistic features such as no use of eye contact, stereotyped movements and echolalia were found in 9/13 boys; the same number showed aggressive behaviour. General activity was reduced during the 1st year of life; most boys became very hyperactive during the second year; and short attention span and increased distractability were observed in all. Motor development was mildly delayed; all boys were clumsy and moderately hypotonic. The fragile X syndrome ought to be considered in retarded boys with a dissociated developmental pattern, in particular a striking delay in language and play development, and autistic features.

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“…A score of 5 or more (out of 14) achieved a sensitivity of 100% and a specificity of 87% for the FMR1 gene CGG repeat expansion when applied to a population sample of males with undiagnosed mental retardation. Skin laxity or hyperelasticity, intention tremor and marked laxity of ankle and foot ligaments have been previously noted in males with FXS [Opitz and Sutherland, 1984]. Our patient has several findings that are not typical of FXS such as prominent fingertip pads, quadriceps wasting, proximal lower limb weakness, paucity of speech, and a placid temperament.…”

mentioning

confidence: 65%