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Literature DB >> 8168819

Familial unbalanced translocation t(8;15)(p23.3;q11) with uniparental disomy in Angelman syndrome.

A Smith¹, Z M Deng, R Beran, T Woodage, R J Trent.

Abstract

A 29-year-old male with Angelman syndrome and an unbalanced reciprocal translocation, 45,XY,-8, -15, +der(8),t(8;15)(p23.3;q11)pat, was evaluated with DNA studies. These showed the underlying mechanism to be paternal uniparental disomy. This is the second case reported of Angelman syndrome that has resulted from a familial unbalanced reciprocal translocation.

Entities: Disease

Mesh：

Year: 1994 PMID： 8168819 DOI： 10.1007/bf00201679

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

11 in total

1. Molecular and cytogenetic studies of the Prader-Willi syndrome.

Authors: R J Trent; F Volpato; A Smith; R Lindeman; M K Wong; G Warne; E Haan
Journal: J Med Genet Date: 1991-10 Impact factor: 6.318

2. Uniparental paternal disomy in Angelman's syndrome.

Authors: S Malcolm; J Clayton-Smith; M Nichols; S Robb; T Webb; J A Armour; A J Jeffreys; M E Pembrey
Journal: Lancet Date: 1991-03-23 Impact factor: 79.321

3. Familial deletion.

Authors: A Smith; R Murray; G Den Dulk
Journal: Ann Genet Date: 1983

4. Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion.

Authors: J H Knoll; R D Nicholls; R E Magenis; J M Graham; M Lalande; S A Latt
Journal: Am J Med Genet Date: 1989-02

Review 5. Fluorescence in-situ hybridisation and molecular studies used in the characterisation of a Robertsonian translocation (13q15q) in Prader-Willi syndrome.

Authors: A Smith; L Robson; A Neumann; M Mulcahy; V Chabros; Z M Deng; T Woodage; R J Trent
Journal: Clin Genet Date: 1993-01 Impact factor: 4.438

6. Paternal uniparental disomy in a child with a balanced 15;15 translocation and Angelman syndrome.

Authors: S B Freeman; K M May; D Pettay; P M Fernhoff; T J Hassold
Journal: Am J Med Genet Date: 1993-03-01

7. Chromosome 15 uniparental disomy is not frequent in Angelman syndrome.

Authors: J H Knoll; K A Glatt; R D Nicholls; S Malcolm; M Lalande
Journal: Am J Hum Genet Date: 1991-01 Impact factor: 11.025

8. Dinucleotide repeat polymorphism at the D15S11 locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15.

Authors: A Mutirangura; A Kuwano; S A Ledbetter; A C Chinault; D H Ledbetter
Journal: Hum Mol Genet Date: 1992-05 Impact factor: 6.150

9. Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: specific regions, extent of deletions, parental origin, and clinical consequences.

Authors: R E Magenis; S Toth-Fejel; L J Allen; M Black; M G Brown; S Budden; R Cohen; J M Friedman; D Kalousek; J Zonana
Journal: Am J Med Genet Date: 1990-03

6. Investigations with fluorescence in situ hybridization (FISH) demonstrate loss of the telomeres on the reciprocal chromosome in three unbalanced translocations involving chromosome 15 in the Prader-Willi and Angelman syndromes.

Authors: A Jauch; L Robson; A Smith
Journal: Hum Genet Date: 1995-09 Impact factor: 4.132

7. Comparison of high resolution cytogenetics, fluorescence in situ hybridisation, and DNA studies to validate the diagnosis of Prader-Willi and Angelman's syndromes.

Authors: A Smith; M Prasad; Z M Deng; L Robson; T Woodage; R J Trent
Journal: Arch Dis Child Date: 1995-05 Impact factor: 3.791

Review 8. Angelman syndrome: a review of the clinical and genetic aspects.

Authors: J Clayton-Smith; L Laan
Journal: J Med Genet Date: 2003-02 Impact factor: 6.318

8 in total

Familial unbalanced translocation t(8;15)(p23.3;q11) with uniparental disomy in Angelman syndrome.

1. Molecular and cytogenetic studies of the Prader-Willi syndrome.

2. Uniparental paternal disomy in Angelman's syndrome.

3. Familial deletion.

4. Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion.

Review 5. Fluorescence in-situ hybridisation and molecular studies used in the characterisation of a Robertsonian translocation (13q15q) in Prader-Willi syndrome.

6. Paternal uniparental disomy in a child with a balanced 15;15 translocation and Angelman syndrome.

7. Chromosome 15 uniparental disomy is not frequent in Angelman syndrome.

8. Dinucleotide repeat polymorphism at the D15S11 locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15.

9. Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: specific regions, extent of deletions, parental origin, and clinical consequences.

10. The EEG in early diagnosis of the Angelman (happy puppet) syndrome.

1. The size distribution of homozygous segments in the human genome.

2. Recurrence of Angelman syndrome in siblings: challenges in genetic counseling.

3. Distinct phenotypes distinguish the molecular classes of Angelman syndrome.

4. Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy.

Review 5. Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements.

6. Investigations with fluorescence in situ hybridization (FISH) demonstrate loss of the telomeres on the reciprocal chromosome in three unbalanced translocations involving chromosome 15 in the Prader-Willi and Angelman syndromes.

7. Comparison of high resolution cytogenetics, fluorescence in situ hybridisation, and DNA studies to validate the diagnosis of Prader-Willi and Angelman's syndromes.

Review 8. Angelman syndrome: a review of the clinical and genetic aspects.