Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: Sex specific differences

John Mitchell, Albert Schinzel, Sylvie Langlois, Gabriele Gillessen-Kaesbach, Simone Schuffenhauer, Ron Michaelis, Dvorah Abeliovich, Isabel Lerer, Susan Christian, Miriam Guitart, Deborah E. McFadden, Wendy P. Robinson*

*Korrespondierende/r Autor/-in für diese Arbeit
57 Zitate (Scopus)


Prader-Willi syndrome (PWS) results primarily from either a paternal deletion of 15q11-q13 or maternal uniparental disomy (UPD) 15. Birth parameters and clinical presentation of 79 confirmed UPD cases and 43 deletion patients were compared in order to test whether any manifestations differ between the two groups. There were no major clinical differences between the two classes analyzed as a whole, other than the presence of hypopigmentation predominantly in the deletion group. However, there was a significant bias in sex-ratio (P<.001) limited to the UPD group with a predominance (68%) of males. An equal number of males and females was observed in the deletion group. When analyzed by sex, several significant differences between the UPD and deletion groups were observed. Female UPD patients were found to be less severely affected than female deletion patients in terms of length of gavage feeding and a later onset of hyperphagia. Although these traits are likely to be influenced by external factors, they may reflect a milder presentation of female UPD patients which could explain the observed sex bias by causing under-ascertainment of female UPD. Alternatively, there may be an effect of sex on either early trisomy 15 survival or the probability of somatic loss of a chromosome from a trisomic conceptus.

ZeitschriftAmerican Journal of Medical Genetics
Seiten (von - bis)133-136
PublikationsstatusVeröffentlicht - 16.10.1996

Strategische Forschungsbereiche und Zentren

  • Querschnittsbereich: Medizinische Genetik


Untersuchen Sie die Forschungsthemen von „Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: Sex specific differences“. Zusammen bilden sie einen einzigartigen Fingerprint.