Angelman (happy puppet) syndrome in a girl and her brother.

Fisher, Julie; Burn, John; Alexander, F W; Gardner-Medwin, D.

doi:10.1136/jmg.24.5.294

Cited by 26 publications

(12 citation statements)

References 9 publications

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“…The first descriptions were of sporadic cases but recent reports have confirmed that the syndrome may recur within a sibship [Willems et al, 1987;Fisher et al, 1987;Baraitser e t al., 19871. Although routinely banded chromosome analysis is typically normal, high resolution banding has shown that several affected individuals have a deletion in proximal 15q [Magenis et al, 1987;Pembrey et al, 1988;Kaplan et al, 19871.…”

Section: Introductionmentioning

confidence: 91%

Detection of a 15q deletion in a child with Angelman syndrome by cytogenetic analysis and flow cytometry

Cooke¹,

Tolmie²,

Glencross³

et al. 1989

Am. J. Med. Genet.

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A proximal 15q deletion, del(15) (q11:q13), was detected in a child with Angelman syndrome by cytogenetic analysis of peripheral lymphocytes. The chromosomes of both parents appeared normal. Flow karyotype analysis carried out on lymphoblastoid cell lines derived from the child and her parents confirmed the presence of a de novo 15 deletion. The estimated size of the deleted segment ranged from 6.1-9.5% of chromosome 15 (approximately 6-9.3 million base pairs). The parental origin of the deleted chromosome could not be resolved by flow cytometry, but cytogenetic evidence suggested that it was derived from the smaller chromosome 15 homologue in the mother.

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Section: Introductionmentioning

confidence: 91%

Detection of a 15q deletion in a child with Angelman syndrome by cytogenetic analysis and flow cytometry

Cooke¹,

Tolmie²,

Glencross³

et al. 1989

Am. J. Med. Genet.

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“…Clinical findings of 36 familial cases, reported in the literature, are shown in Table II [Kuroki et al, 1980;Hersh et al, 1981;Pashayan et al, 1982;Willems et al, 1987;Fisher et al, 1987;Baraitser et al, 1987;Robb et al, 1989;Imaizumi et al, 1990;Hamabe et al, 1991;Meijers-Heijboer et al, 1992;Zori et al, 1992;Reis et al, 1994]. These data were compared with our familial cases and patients with a cytogenetic or molecular anomaly.…”

Section: Familial Cases From the Literaturementioning

confidence: 85%

Angelman syndrome without detectable chromosome 15q11-13 anomaly: Clinical study of familial and isolated cases

et al. 1998

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The clinical findings in 12 Angelman syndrome (AS) patients (4 sib pairs and 4 sporadic cases, aged 12-55 years) without a cytogenetic or molecular detectable defect at the AS locus were compared to those of 28 AS patients (aged 11-50 years) with a deletion, in order to determine whether the clinical spectrum differed between the two groups. There were only two minor differences, i.e., mandibular prognathism was always found in the patients with a defect (100% vs. 58%), whereas truncal hypotonia was found less frequently in the group with a detectable genetic defect (54% vs. 91%). All other clinical and physical characteristics were equally represented in the two groups. Epileptic seizures occurred in 93% and 75%, respectively, of patients with and without a detectable chromosome 15 defect. Specific EEG patterns were found in 90% of both groups. The clinical signs and symptoms of our patients closely resemble those in familial AS cases reported in the literature, with the exception of scoliosis, which was present in 55% of the patients in our study. We conclude that the absence of a detectable cytogenetic or molecular defect at the AS locus is not associated with a strikingly different AS phenotype, compared to those with such a defect. Mutation analysis of the UBE3A gene in our patients without a detectable genetic defect, especially in the familial cases, is currently underway.

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“…Most AS patients are sporadic occurrences, although recurrence in sibs has been reported on five occasions [Fisher et al, 1987;Hersh et al, 1981;Kuroki, 1980;Pashayan et al, 1982;Willems et al, 19871. To our knowledge, high-resolution chromosome or molecular studies have not been reported in these sibs and it is or great interest to determine whether or not 15q deletions are present in these presumed autosomal recessive cases.…”

Section: Discussionmentioning

confidence: 98%

Incidence of 15q deletions in the Angelman syndrome: A survey of twelve affected persons

et al. 1989

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Prometaphase chromosome study of 12 persons with an established diagnosis of the Angelman syndrome demonstrated that 5 had a 15q12 deletion appearing similar to that commonly observed in the Prader-Willi syndrome. Phenotype-karyotype correlation did not show any obvious clinical differences between those with and those without the deletion and no clinical overlap between Angelman and Prader-Willi syndrome was apparent. Our survey suggests that 15q12 deletions are frequent in Angelman syndrome but presence of the deletion does not appear to distinguish different clinical phenotypes. Experience with the cytogenetic study of Prader-Willi syndrome predicts that considerable complexity will emerge between the presence of 15 chromosome abnormalities and clinical expression of Angelman syndrome.

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Angelman (happy puppet) syndrome in a girl and her brother.

Cited by 26 publications

References 9 publications

Detection of a 15q deletion in a child with Angelman syndrome by cytogenetic analysis and flow cytometry

Detection of a 15q deletion in a child with Angelman syndrome by cytogenetic analysis and flow cytometry

Angelman syndrome without detectable chromosome 15q11-13 anomaly: Clinical study of familial and isolated cases

Incidence of 15q deletions in the Angelman syndrome: A survey of twelve affected persons

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