Screening of mentally retarded males for macro‐orchidism and the fragile X chromosome

Howard‐Peebles, Patricia N.; Finley, Wayne H.; Opitz, John M.

doi:10.1002/ajmg.1320150414

Cited by 25 publications

(13 citation statements)

References 13 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…In the authors' preliminary study, macro-orchidism was found to be present in 20" 8% of institutionalized males (Pozsonyi et al, 1981). This finding has since been confirmed by Brondum-Nielsen et al (1983) and Howard-Peebles & Finley (1983) who reported that the incidence of macro-orchidism among mentally retarded males was 29% and 20%, respectively. Howard-Peebles & Finley (1983) and Primrose (1984) found testes exceeding 34-35 ml in 8-3% and 12-9% (after exclusion of Down's syndrome patients) of retarded males respectively.…”

Section: Discussionsupporting

confidence: 64%

“…Reported frequencies for the fra(X) syndrome among institutionalized males have varied greatly as a result of different selection criteria (IQ levels, physical phenotype, family history of XLMR) (Venter & Op't, 1982;Carpenter et al, 1982;Sutherland, 1982;Blomquist et al, 1982Blomquist et al, , 1983Jacobs et al, 1983;Froster-Iskenius et al, 1983;Primrose et al, 1986). The fra (X) frequency has been shown to increase dramatically among MR males selected on the basis of increasing testicular size (Brondum-Nielsen et al, 1982;Shapiro et al, 1983;Howard-Peebles & Finley, 1983). The overall consensus of these studies ranks the fra(X) syndrome second to Down's syndrome as a major cause of mental retardation.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

The use of testicular volume as a clinical marker for cytogenetic disorders in mentally retarded males

Kirkilionis

Pozsonyi

Sergovich

1988

J intellect Disabil Res

View full text Add to dashboard Cite

ABSTRACT. The testicular volumes (V) of 817 adult (non‐Down's syndrome) institutionalized males were calculated. The mean testicular volume was 19.5±15.8 ml, comparable to the normal adult male mean of 17–19 ml. However, the number of institutionalized males with V≤25 ml and V≤10 ml was increased approximately fourfold over the normal male population. Resident adult males were grouped into three categories based on their testicular volumes: (1) V≤25 ml (macro‐orchid); (2) V≤15 ml (micro‐orchid); and (3) 15 < V < 25 ml (‘normal’). An equal number of randomly selected males from each category were cytogenetically screened for the fra(X) syndrome as well as for non‐fra(X) chromosome abnormalities. The overall frequencies of these disorders were 3.1% and 3.9%, respectively. The fra(X) syndrome was found in a significantly higher percentage of macro‐orchid males (10.3%) as compared to males with either micro‐orchidism (1.2%) or normal testicular volume (1.2%). There was no significant difference in the distribution of either fra(X) negative non‐specific XLMR or non‐fra(X) chromosome abnormalities among resident males from these three categories. Testicular volumes ≥25 ml, especially those exceeding 40 ml, were thus shown to be useful clinical markers in the diagnosis of the fra(X) syndrome. Reduced testicular volume was not a useful clinical marker in the evaluation of other non‐Down's syndrome chromosome abnormalities.

show abstract

Section: Discussionsupporting

confidence: 64%

Section: Discussionmentioning

confidence: 99%

The use of testicular volume as a clinical marker for cytogenetic disorders in mentally retarded males

Kirkilionis

Pozsonyi

Sergovich

1988

J intellect Disabil Res

View full text Add to dashboard Cite

show abstract

“…Significant FMR-1 protein expression may be responsible for higher cognitive functioning in the 2 males with unmethylated INTRODUCTION In the early years of fragile X (fra(X)) male identification; it was the severely affected individuals who came to medical attention, and most reports defined all fra(X) males as mentally retarded [Martin and Bell, 1943;Turner et al, 1980;Hagerman et al, 19831. Institutional studies furthered the concept that fra(X) males are retarded since almost all patients in an institution for the developmentally disabled are retarded. Approximately 2%-10% of institutionalized patients were found to be fra(X) positive by cytogenetic analysis and these individuals represented the severe end of the fra(X) spectrum [Carpenter et al, 1982;Froster-Iskenius et al, 1983;Howard-Peebles and Finley, 1983;Primrose et al, 1986;Hagerman et al, 19881. In 1981, Daker et al [1981 presented a surprising report of a normal man who demonstrated the fra(X) chromosome.…”

mentioning

confidence: 99%

High functioning fragile X males: Demonstration of an unmethylated fully expanded FMR‐1 mutation associated with protein expression

et al. 1994

View full text Add to dashboard Cite

Fragile X (fra(X)) males with a standardized IQ score of 70 or higher represent a high functioning (HF) or nonretarded fra(X) male group. This group, which does not include nonpenetrant males, has received little research attention to date. Of 221 fra(X) males who had been evaluated through The Children's Hospital in Denver since 1981 and had completed cognitive or developmental testing, 29 (13%) were high functioning by the above definition. We found that HF males on the whole had a lower cytogenetic score and were younger than retarded fra(X) males, but there was no difference between these two groups in the number of typical fra(X) physical manifestations present. FMR-1 DNA testing was performed on 134 fra(X) males and methylation status was determined for 51 of these. A greater percentage of HF males had a mosaic pattern or an incompletely methylated full mutation than did retarded males. A unique DNA pattern, an unmethylated fully expanded mutation, was discovered in 3 of the highest functioning fra(X) males. Protein studies performed on 2 of these males demonstrated the presence of FMR-1 protein, albeit at lower levels than normal. FMR-1 protein was not present in retarded fra(X) males. Significant FMR-1 protein expression may be responsible for higher cognitive functioning in the 2 males with unmethylated fully expanded mutations compared to retarded fra(X) males.

show abstract

“…The observation of an excessive number of mildly retarded boys with large testes suggests that there may be an allelic mutation which gives rise to x-linked mental retardation and large testes, without the fragile site. Jennings et al (1980) found one such family, and other cases have been reported by Fishburn et al (1983) andHoward-Peebles andFinley (1983). When the gene associated with mental retardation is identified in patients with the fragile x syndrome, it will be of great interest to look again at the boys with macro-orchidism and no fragile x to see whether they have a mutation at the same site.…”

Section: Discussionmentioning

confidence: 99%

“…Jennings et al (1980) found one such family, and other cases have been reported by Fishburn et al (1983) andHoward-Peebles andFinley (1983). Jennings et al (1980) found one such family, and other cases have been reported by Fishburn et al (1983) andHoward-Peebles andFinley (1983).…”

Section: Schools Inmentioning

confidence: 99%

Children With The Fragile X Chromosome At Schools For The Mildly Mentally Retarded

Thake¹,

Todd²,

Webb³

et al. 1987

Develop Med Child Neuro

View full text Add to dashboard Cite

SUMMARY An investigation of children in schools for the moderately mentally handicapped in Coventry demonstrated that 29 of 259 children had a significant chromosomal abnormality. 10 of 155 boys (6 per cent) and 10 of 104 girls (10 per cent) had the fragile X syndrome. The clinical features which suggested this syndrome in males were IQ in the 50 to 70 range, head circumference greater than the 50th centile and post‐pubertal testicular volume greater than the 50th centile. For both males and females, large ears were a useful sign. All children with fragile X had a carrier parent. The occurrence of mental retardation among sibs was one in two for brothers and one in four sisters. Considering all the males with fragile X syndrome resident in Coventry (this and previous studies), there were twice as many in schools for the moderately mentally handicapped as there were in schools for the severely mentally handicapped. There were as many females as males in the schools for the moderately mentally handicapped. RÉSUMÉ Enfants avec syndrome de chromosome X fragile dans les écoles pour retardés mentaux légers Une exploration des enfants des écoles pour retard mental modéré à Coventry a montré que 29 parmi 259 enfants présentaient une anomalie chromosomique significative. 10 parmi 155 garçons (6 pour cent) at 10 parmi 104 filles (10 pour cent) présentaient un syndrome d'X fragile. Les caractéristiques cliniques suggérant le syndrome chez les garçons étaient un QI compris entre 50 et 70, un tour de tête supérieur au 50ème centile et un volume testiculaire post‐pubertaire supérieur au 50ème centile. Chez les garçons comme chez les filles, de grandes oreilles étaient un signe d'orientation. Tous les enfants avec X fragile avaient un parent porteur. L'occurence du retard mental dans la fratrie était d'un pour deux chez les frères et d'un pour quatre chez les soeurs. Considérant tous les garçons avec un syndrome d'X fragile résidant à Coventry (Etude actuelle et étude précédente), ceux‐ci sont deux fois plus nombreux dans les écoles pour retard mental modéré qu'ils ne le sont dans les écoles pour arriération mentale sévère. On notait autant de filles que de garçons dans les écoles pour retard mental léger. ZUSAMMENFASSUNG Kinder mit fragilem X‐Syndrom an Schulen für Kinder mit leichter geigstiger Behinderung Eine Untersuchung von Kindern in Schulen für Kinder mit leichter geistiger Behinderung in Coventry zeigte, daß 29 von 259 Kindern eine eindeutige Chromosomenanomalie aufwiesen. 10 von 155 Jungen (6 Prozent) und 10 von 104 Mädchen (10 Prozent) hatten ein fragiles X‐Syndrom. Die klinischen Markmale, die dieses Syndrom bei den Jungen vermuten ließen, waren ein IQ zwischen 50 und 70, ein Kopfumfang über der 50sten Perzentile und eine postpubertäre Hodengröße über der 50sten Perzentile. Sowohl bei den Jungen als auch bei den Mädchen waren die großen Ohren ein hilfreicher Hinweis. Alle Kinder mit fragilem X‐Syndrom hatten einen Elternteil mit dieser Erbanlage. Das Auftreten von geistiger Retardierung bei Geschwistern war eins von...

show abstract

Screening of mentally retarded males for macro‐orchidism and the fragile X chromosome

Cited by 25 publications

References 13 publications

The use of testicular volume as a clinical marker for cytogenetic disorders in mentally retarded males

The use of testicular volume as a clinical marker for cytogenetic disorders in mentally retarded males

High functioning fragile X males: Demonstration of an unmethylated fully expanded FMR‐1 mutation associated with protein expression

Children With The Fragile X Chromosome At Schools For The Mildly Mentally Retarded

Contact Info

Product

Resources

About