Literature DB >> 2564739

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

J H Knoll1, R D Nicholls, R E Magenis, J M Graham, M Lalande, S A Latt.   

Abstract

Many Prader-Willi syndrome (PWS) and Angelman syndrome (AS) patients have a cytogenetic deletion of 15q11q13. While AS and PWS share a similar cytogenetic anomaly, they have very different clinical phenotypes. DNAs from 4 AS patients were examined using 5 chromosome 15q11q13-specific cloned DNA segments. With the present level of resolution, the molecular deletions between AS and those previously reported for PWS did not appear to differ. However, in contrast to the paternal inheritance of the deleted chromosome 15 observed in the majority of PWS patients, maternal inheritance of the deleted chromosome 15 was demonstrated in the AS patients by restriction fragment length polymorphisms (RFLPs).

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Year:  1989        PMID: 2564739     DOI: 10.1002/ajmg.1320320235

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


  136 in total

1.  Sequence-based design of single-copy genomic DNA probes for fluorescence in situ hybridization.

Authors:  P K Rogan; P M Cazcarro; J H Knoll
Journal:  Genome Res       Date:  2001-06       Impact factor: 9.043

2.  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

3.  A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.

Authors:  D A Driscoll; M L Budarf; B S Emanuel
Journal:  Am J Hum Genet       Date:  1992-05       Impact factor: 11.025

4.  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

5.  High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage.

Authors:  Nicholas J Wang; Dahai Liu; Alexander S Parokonny; N Carolyn Schanen
Journal:  Am J Hum Genet       Date:  2004-06-11       Impact factor: 11.025

6.  Angelman's syndrome.

Authors:  J Clayton-Smith
Journal:  Arch Dis Child       Date:  1992-07       Impact factor: 3.791

7.  Epigenetics and assisted reproductive technology: a call for investigation.

Authors:  Emily L Niemitz; Andrew P Feinberg
Journal:  Am J Hum Genet       Date:  2004-02-27       Impact factor: 11.025

8.  Tissue-specific variation of Ube3a protein expression in rodents and in a mouse model of Angelman syndrome.

Authors:  Richard M Gustin; Terry Jo Bichell; Michael Bubser; Jennifer Daily; Irina Filonova; Davit Mrelashvili; Ariel Y Deutch; Roger J Colbran; Edwin J Weeber; Kevin F Haas
Journal:  Neurobiol Dis       Date:  2010-04-25       Impact factor: 5.996

Review 9.  Fetal environment, epigenetics, and pediatric renal disease.

Authors:  Robert Woroniecki; Anil Bhanudas Gaikwad; Katalin Susztak
Journal:  Pediatr Nephrol       Date:  2010-12-21       Impact factor: 3.714

Review 10.  Dysmorphic disorders--an overview.

Authors:  D Donnai
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

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