Rapid Publication Article

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

  1. J. H. M. Knoll1,2,
  2. R. D. Nicholls1,2,4,
  3. R. E. Magenis5,
  4. J. M. Graham Jr.6,
  5. M. Lalande1,2,4,*,
  6. S. A. Latt1,2,3,4,
  7. John M. Opitz Editor,
  8. James F. Reynolds Editor

Article first published online: 5 JUN 2005

DOI: 10.1002/ajmg.1320320235

Issue

American Journal of Medical Genetics

American Journal of Medical Genetics

Volume 32, Issue 2, pages 285–290, February 1989

Additional Information

How to Cite

Knoll, J. H. M., Nicholls, R. D., Magenis, R. E., Graham, J. M., Lalande, M., Latt, S. A., Opitz, J. M. and Reynolds, J. F. (1989), Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. Am. J. Med. Genet., 32: 285–290. doi: 10.1002/ajmg.1320320235

Author Information

  1. 1

    Division of Genetics; Howard Hughes Medical Institute, Boston, MA

  2. 2

    Division of The Children's Hospital; Departments of Pediatrics, Boston, MA

  3. 3

    Division of Genetics; Howard Hughes Medical Institute, Boston, MA

  4. 4

    Harvard Medical School; Howard Hughes Medical Institute, Boston, MA

  5. 5

    Department of Medical Genetics and Crippled Children's Division, Oregon Health Sciences University, Portland, OR

  6. 6

    Division of Clinical Genetics and Dysmorphology, Cedars-Sinai Medical Center, and Department of Pediatrics, UCLA School of Medicine, Los Angeles, CA

*Genetics Division, The Children's Hospital, 300 Longwood Ave., Boston, MA 02115

Publication History

  1. Issue published online: 5 JUN 2005
  2. Article first published online: 5 JUN 2005

Funded by

  • National Institute of Health. Grant Number: HD18658
  • Howard Hughes Medical Institute

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Keywords:

  • Angelman syndrome;
  • Prader-Willi syndrome;
  • chromosome 15;
  • deletion;
  • parental origin

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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