Duplication or insertion in 15q11–13 associated with mental retardation ‐short stature and obesity ‐ Prader‐Willi or Cohen syndrome?

Fuhrmann-Rieger, A; Köhler, Angelika; Fuhrmann, Walter

doi:10.1111/j.1399-0004.1984.tb02002.x

Cited by 28 publications

(4 citation statements)

References 13 publications

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“…The arrowed chromosomes 15 in Figure 3 of Fuhrmann-Rieger's paper (Fuhrmann-Rieger et al 1984) do not have duplication or insertion; they represent rather normal chromosomes 15. It is impossible to judge from only two pairs of chromosomes 15 as to whether there is a deletion in the unarrowed chromosomes 15.…”

Section: Sirsmentioning

confidence: 97%

Cytogenetics of Prader‐Willi Syndrome

Hoo

1984

Clinical Genetics

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Section: Sirsmentioning

confidence: 97%

Cytogenetics of Prader‐Willi Syndrome

Hoo

1984

Clinical Genetics

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“…There have also been de notlo 15q duplications/triplications identified (13)(14)(15) in association with a similar clinical phenotype, as well as features of the Cohen syndrome (16), PWS (17,18) and AS (19). There have also been de notlo 15q duplications/triplications identified (13)(14)(15) in association with a similar clinical phenotype, as well as features of the Cohen syndrome (16), PWS (17,18) and AS (19).…”

mentioning

confidence: 96%

The evaluation of 15q proximal duplications by FISH

Riordan

Dawson

1998

Clinical Genetics

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Six patients from the clinical cytogenetics laboratory identified as having the normal variant dup( 15)(q12) were further evaluated using fluorescence in siru hybridization (FISH). The purpose of this study was to ascertain whether any of the Prader-Willi/Angelrnan Chromosome Region ( P W C R and ANCR. respectively) loci were duplicated in these patients. The results indicated that the patients could be categorized into two groups. The first group showed no duplication of the PWCRIANCR loci and appeared to belong to the dup(15)(q12) class which is phenotypically silent and is therefore called the normal variant. The second group also showed no duplication of the PWCRI ANCR loci, but had a large alpha satellite variant with D15Z. It is hypothesized that these patients do not have a duplication of 15q12 but rather a centromeric variant which mimics the dup( 15)(q12). This study confirms the importance of evaluating apparent variations in the proximal region of chromosome 15 with FISH.

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“…Norio and colleagues (1984) found that several of their patients had been incorrectly diagnosed as having a variety of other conditions including Marfan syndrome, Soto syndrome, and hypothyroidism. Problems associated with obesity and overeating have also resulted in the confusion of Cohen syndrome with Prader-Willi syndrome (Fraccaro et al 1983, Fuhrmann-Rieger et al 1984 although the two conditions appear to be genetically dissimilar (Kondo et al 1990b). The most common misdiagnosis reported by Norio and coworkers (1984) was 'mental retardation of an unknown cause' (p 6).…”

mentioning

confidence: 99%

Autistic features in Cohen syndrome: a preliminary report

Howlin

2001

Develop Med Child Neuro

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Cohen syndrome is a rare, genetic, connective‐tissue disorder, with the genetic abnormality linked to chromosome 8q22. Its physical features (particular facial characteristics; body, limb, and visual abnormalities; height and weight problems) have been well documented but little is known about the psychological and behavioural development of individuals with the condition. Suggestion of a dual diagnosis of autism in a small minority of individuals led to a more detailed survey of parents belonging to the Cohen Syndrome Support Group, based in the UK. Thirty‐three individuals, 18 males and 15 females, aged from 2 to 45 years (mean age 15 years) were involved in the study. Over half of the participants (n=19) showed a pattern of impairments in social and communication skills, together with rigid and stereotyped behaviours or interests that seemed to meet DSM‐IV/ICD‐10 criteria for autism.‘Autistic‐type’problems were as common in females as in males. In almost all cases, parents had noted difficulties in their child before the child reached the age of 1 year. This study suffers from a number of methodological shortcomings including the fact that it was a postal survey, the sample size was small, and no standardized diagnostic or psychometric data were available. However, the incidence of social, communication, and behavioural problems would seem to warrant further research and a larger‐scale study is planned in association with an independent investigation of physical and genetic characteristics in the same group of individuals.

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Duplication or insertion in 15q11–13 associated with mental retardation ‐short stature and obesity ‐ Prader‐Willi or Cohen syndrome?

Cited by 28 publications

References 13 publications

Cytogenetics of Prader‐Willi Syndrome

Cytogenetics of Prader‐Willi Syndrome

The evaluation of 15q proximal duplications by FISH

Autistic features in Cohen syndrome: a preliminary report

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