Literature DB >> 1740313

Maternal origin of deletion 15q11-13 in 25/25 cases of Angelman syndrome.

J C Smith1, T Webb, M E Pembrey, M Nichols, S Malcolm.   

Abstract

About half of the cases of Angelman syndrome arise from deletions of chromosome band 15q12. In 25 cases we have been able to determine the parental origin of the deletion and, in line with other reported cases, we have found the deletion to be of maternal origin. There were no exceptions. The parental origin was determined using cytogenetic markers in 13 of the cases, in nine by using the pattern of inheritance of restriction fragment length polymorphisms, and in three using both techniques.

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Year:  1992        PMID： 1740313     DOI： 10.1007/bf00215668

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


  11 in total

1.  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

2.  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

3.  An improved technique for selective silver staining of nucleolar organizer regions in human chromosomes.

Authors:  S E Bloom; C Goodpasture
Journal:  Hum Genet       Date:  1976-10-28       Impact factor: 4.132

4.  Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome.

Authors:  R D Nicholls; J H Knoll; K Glatt; J H Hersh; T D Brewster; J M Graham; D Wurster-Hill; R Wharton; S A Latt
Journal:  Am J Med Genet       Date:  1989-05

5.  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

6.  Is Angelman syndrome an alternate result of del(15)(q11q13)?

Authors:  R E Magenis; M G Brown; D A Lacy; S Budden; S LaFranchi
Journal:  Am J Med Genet       Date:  1987-12

7.  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

8.  Prader-Willi syndrome: current understanding of cause and diagnosis.

Authors:  M G Butler
Journal:  Am J Med Genet       Date:  1990-03

9.  Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers.

Authors:  J H Knoll; R D Nicholls; R E Magenis; K Glatt; J M Graham; L Kaplan; M Lalande
Journal:  Am J Hum Genet       Date:  1990-07       Impact factor: 11.025

10.  Parental origin of chromosome 15 deletion in Prader-Willi syndrome.

Authors:  M G Butler; C G Palmer
Journal:  Lancet       Date:  1983-06-04       Impact factor: 79.321
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  11 in total

1.  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

2.  Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3.

Authors:  V Greger; J H Knoll; J Wagstaff; E Woolf; P Lieske; H Glatt; P A Benn; S S Rosengren; M Lalande
Journal:  Am J Hum Genet       Date:  1997-03       Impact factor: 11.025

Review 3.  Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.

Authors:  A Smith; C Wiles; E Haan; J McGill; G Wallace; J Dixon; R Selby; A Colley; R Marks; R J Trent
Journal:  J Med Genet       Date:  1996-02       Impact factor: 6.318

Review 4.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

Authors:  N Tommerup
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

5.  Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.

Authors:  C E Browne; N R Dennis; E Maher; F L Long; J C Nicholson; J Sillibourne; J C Barber
Journal:  Am J Hum Genet       Date:  1997-12       Impact factor: 11.025

Review 6.  Mouse homologues of human hereditary disease.

Authors:  A G Searle; J H Edwards; J G Hall
Journal:  J Med Genet       Date:  1994-01       Impact factor: 6.318

7.  A genetic model for the Prader-Willi syndrome and its implication for Angelman syndrome.

Authors:  I Kennerknecht
Journal:  Hum Genet       Date:  1992 Sep-Oct       Impact factor: 4.132

8.  High-resolution mapping of the gamma-aminobutyric acid receptor subunit beta 3 and alpha 5 gene cluster on chromosome 15q11-q13, and localization of breakpoints in two Angelman syndrome patients.

Authors:  D Sinnett; J Wagstaff; K Glatt; E Woolf; E J Kirkness; M Lalande
Journal:  Am J Hum Genet       Date:  1993-06       Impact factor: 11.025

9.  A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes.

Authors:  K A Chotai; S J Payne
Journal:  J Med Genet       Date:  1998-06       Impact factor: 6.318

10.  Molecular mechanisms in Angelman syndrome: a survey of 93 patients.

Authors:  C T Chan; J Clayton-Smith; X J Cheng; J Buxton; T Webb; M E Pembrey; S Malcolm
Journal:  J Med Genet       Date:  1993-11       Impact factor: 6.318
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