Literature DB >> 3321989

Recurrence risk in the Angelman ("happy puppet") syndrome.

P J Willems1, I Dijkstra, O F Brouwer, G P Smit.   

Abstract

We report on two sibs with Angelman "happy puppet" syndrome. Out of 48 families reported in the literature, this is only the fourth family with affected sibs. A review of the literature shows a low but not negligible recurrence risk. Different explanations for this are discussed.

Entities:  

Mesh：

Year:  1987        PMID： 3321989     DOI： 10.1002/ajmg.1320270405

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  13 in total

1.  The p locus is closely linked to the mouse homolog of a gene from the Prader-Willi chromosomal region.

Authors:  Y Nakatsu; Y Gondo; M H Brilliant
Journal:  Mamm Genome       Date:  1992       Impact factor: 2.957

2.  Angelman syndrome with a chromosomal inversion 15 inv(p11q13) accompanied by a deletion in 15q11q13.

Authors:  T Webb; J Clayton-Smith; X J Cheng; J H Knoll; M Lalande; M E Pembrey; S Malcolm
Journal:  J Med Genet       Date:  1992-12       Impact factor: 6.318

3.  Genetic and molecular analysis of recessive alleles at the pink-eyed dilution (p) locus of the mouse.

Authors:  M F Lyon; T R King; Y Gondo; J M Gardner; Y Nakatsu; E M Eicher; M H Brilliant
Journal:  Proc Natl Acad Sci U S A       Date:  1992-08-01       Impact factor: 11.205

4.  Angelman syndrome in an inbred family.

Authors:  J Beuten; R C Hennekam; B Van Roy; K Mangelschots; J S Sutcliffe; D J Halley; F A Hennekam; A L Beaudet; P J Willems
Journal:  Hum Genet       Date:  1996-03       Impact factor: 4.132

5.  Angelman's syndrome, abnormality of 15q11-13, and imprinting.

Authors:  J G Hall
Journal:  J Med Genet       Date:  1990-02       Impact factor: 6.318

6.  The association of Angelman's syndrome with deletions within 15q11-13.

Authors:  M Pembrey; S J Fennell; J van den Berghe; M Fitchett; D Summers; L Butler; C Clarke; M Griffiths; E Thompson; M Super
Journal:  J Med Genet       Date:  1989-02       Impact factor: 6.318

7.  Similar molecular deletions on chromosome 15q11.2 are encountered in both the Prader-Willi and Angelman syndromes.

Authors:  T A Donlon
Journal:  Hum Genet       Date:  1988-12       Impact factor: 4.132

Review 8.  Angelman ("happy puppet") syndrome--seven new cases documented by cerebral computed tomography: review of the literature.

Authors:  A Dörries; H L Spohr; J Kunze
Journal:  Eur J Pediatr       Date:  1988-12       Impact factor: 3.183

9.  Molecular study of chromosome 15 in 22 patients with Angelman syndrome.

Authors:  J Beuten; K Mangelschots; I Buntinx; P Coucke; O F Brouwer; R C Hennekam; C Van Broeckhoven; P J Willems
Journal:  Hum Genet       Date:  1993-01       Impact factor: 4.132

10.  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
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.