Get 20M+ Full-Text Papers For Less Than $1.50/day. Start a 14-Day Trial for You or Your Team.

Learn More →

Prader-Willi syndrome and Sotos syndrome

Prader-Willi syndrome and Sotos syndrome Received 20 October, accepted for publication 26 October 1988 Sirs, The Letter to the Editors: The PraderWilli syndrome and the Sotos syndrome: syndromes or sequences? by J. P. Fryns (1988) raises some points: 1. I agree that “it is difficult to prove any causal relationship between the familial occurrence of the pericentric inversion of chromosome 19 and the Prader-Willi syndrome”. Because of clinical ascertainment, it is just a question of time before not only del( 15) or invdup( 15) but different chromosomal variants are found coincidentally associated with PWS. For example. the first reported PWS patient with chromosome aberration had a 47,XYY karyotype (Dunn 1961 cit. in Butler et al. 1986). Among 59 PWS patients, Wenger et al. (1957) found one with “a de novo apparently balanced translocation t(8q; 18q)”. On the other hand, it must be stressed that most patients with supernumerary invdup( 15) do nor have PWS (Maraschio 1981, cited in Fraccaro et al. 1983). Therefore it is very important to consider the effect of the mode of ascertainment and to compare the cytogenetic findings critin cally with those obtained i different control groups. In our cytogenetic laboratory we have also sometimes been involved in the http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical Genetics Wiley

Prader-Willi syndrome and Sotos syndrome

Kennerknecht, I.
Clinical Genetics , Volume 35 (3) – Mar 1, 1989
Download PDF
2 pages

Loading next page...
 
/lp/wiley/prader-willi-syndrome-and-sotos-syndrome-xpcTpf64iT

References (11)

Publisher
Wiley
Copyright
1989 Blackwell Munksgaard
ISSN
0009-9163
eISSN
1399-0004
DOI
10.1111/j.1399-0004.1989.tb02931.x
Publisher site
See Article on Publisher Site

Abstract

Received 20 October, accepted for publication 26 October 1988 Sirs, The Letter to the Editors: The PraderWilli syndrome and the Sotos syndrome: syndromes or sequences? by J. P. Fryns (1988) raises some points: 1. I agree that “it is difficult to prove any causal relationship between the familial occurrence of the pericentric inversion of chromosome 19 and the Prader-Willi syndrome”. Because of clinical ascertainment, it is just a question of time before not only del( 15) or invdup( 15) but different chromosomal variants are found coincidentally associated with PWS. For example. the first reported PWS patient with chromosome aberration had a 47,XYY karyotype (Dunn 1961 cit. in Butler et al. 1986). Among 59 PWS patients, Wenger et al. (1957) found one with “a de novo apparently balanced translocation t(8q; 18q)”. On the other hand, it must be stressed that most patients with supernumerary invdup( 15) do nor have PWS (Maraschio 1981, cited in Fraccaro et al. 1983). Therefore it is very important to consider the effect of the mode of ascertainment and to compare the cytogenetic findings critin cally with those obtained i different control groups. In our cytogenetic laboratory we have also sometimes been involved in the

Journal

Clinical Genetics – Wiley

Published: Mar 1, 1989

There are no references for this article.