Abstract
We report a girl aged 11 and her brother aged five, both with the typical features of Angelman syndrome, and three isolated cases. This report, together with a review of published reports and contact with previous authors, has revealed a total of 41 sibs of probands, although only nine of these are known to have been later born. The possible effect of voluntary restriction of family size after the birth of an affected child is discussed in relation to the possibility of autosomal recessive inheritance, but a recurrence risk of 5% is appropriate for use in the genetic clinic.
Full text
PDF




Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Bjerre I., Fagher B., Ryding E., Rosén I. The Angelman or "happy puppet" syndrome. Clinical and electroencephalographic features and cerebral blood flow. Acta Paediatr Scand. 1984 May;73(3):398–402. doi: 10.1111/j.1651-2227.1994.tb17755.x. [DOI] [PubMed] [Google Scholar]
- Bower B. D., Jeavons P. M. The "happy puppet" syndrome. Arch Dis Child. 1967 Jun;42(223):298–302. doi: 10.1136/adc.42.223.298. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Dooley J. M., Berg J. M., Pakula Z., MacGregor D. L. The puppet-like syndrome of Angelman. Am J Dis Child. 1981 Jul;135(7):621–624. doi: 10.1001/archpedi.1981.02130310027010. [DOI] [PubMed] [Google Scholar]
- Halal F., Chagnon J. L e syndrome de la "marionnette joyeuse". Union Med Can. 1976 Jul;105(7):1077–1083. [PubMed] [Google Scholar]
- Hersh J. H., Bloom A. S., Zimmerman A. W., Dinno N. D., Greenstein R. M., Weisskopf B., Reese A. H. Behavioral correlates in the happy puppet syndrome: a characteristic profile? Dev Med Child Neurol. 1981 Dec;23(6):792–800. doi: 10.1111/j.1469-8749.1981.tb02067.x. [DOI] [PubMed] [Google Scholar]
- Kuroki Y., Matsui I., Yamamoto Y., Ieshima A. The "happy puppet" syndrome in two siblings. Hum Genet. 1980;56(2):227–229. doi: 10.1007/BF00295701. [DOI] [PubMed] [Google Scholar]
- Mayo O., Nelson M. M., Townsend H. R. Three more 'Happy Puppets'. Dev Med Child Neurol. 1973 Feb;15(1):63–74. [PubMed] [Google Scholar]
- Pashayan H. M., Singer W., Bove C., Eisenberg E., Seto B. The Angelman syndrome in two brothers. Am J Med Genet. 1982 Nov;13(3):295–298. doi: 10.1002/ajmg.1320130311. [DOI] [PubMed] [Google Scholar]
- Pelc S., Levy J., Point G. "Happy puppet" syndrome ou syndrome du "pantin hilare". Helv Paediatr Acta. 1976 Aug;31(2):183–188. [PubMed] [Google Scholar]
- Williams C. A., Frias J. L. The Angelman ("happy puppet") syndrome. Am J Med Genet. 1982 Apr;11(4):453–460. doi: 10.1002/ajmg.1320110411. [DOI] [PubMed] [Google Scholar]