Malich

Fakultäten » Medizinische Fakultät » Kinderspital Zürich: Medizinische Klinik » Entwicklungspädiatrie, Abteilung » PD Dr. Oskar Jenni » Malich

Completed research project

Title / Titel	Phenotypic heterogeneity of growth and psychometric intelligence in Prader-Willi syndrome: Variable expression of a contiguous gene syndrome or parent-child resemblance?
PDF	Abstract (PDF, 14 KB)
Summary / Zusammenfassung	Phenotypic heterogeneity in children with Prader-Willi syndrome (PWS) was investigated with respect to variable expression of the contiguous gene syndrome and trait variance. In a prospective study parent-child resemblance of anthropometric and psychometric measures was analyzed in 22 children with PWS (11 females and 11 males; 18 deletions, 4 uniparental disomy (UPD)) and in a control group (88 females and 88 males). The average child-midparent Z score difference for height in females was –1.9 and in males –0.9, for head circumference –1.7 and –1.0, and for body mass index (BMI) 2.3 and 2.7, respectively. Intellectual performance of females and males was, on average, –2.7 and –2.6 below maternal performance. Range and standard deviation were moderately increased for height and head circumference, doubled for BMI and unchanged for IQ. Parent/child correlations for anthropometric and psychometric measurements in the study group did not significantly differ from those of the control group. Exceptions were higher correlations between mothers and daughters for height (p < 0.05) and BMI (p < 0.01), and lower correlations for head circumference between midparent values and daughters (p < 0.05) than in the control group. In conclusion, parent-child resemblance in growth and intellectual development among children with PWS was found to be comparable to that noted in the normal population, indicating a strong determination by trait variance. Children with PWS differed significantly with respect to a lower trait level and - with the exception of IQ - a larger variability. The latter may indicate a variable expression of the contiguous gene syndrome.
Publications / Publikationen	Malich S., Largo R.H., Schinzel A., Molinari L., Eiholzer U.: Phenotypic heterogeneity of growth and psychometric intelligence in Prader-Willi syndrome: variable expression of a contiguous gene syndrome or parent-child resemblance? American Journal of Human Genetics, 91: 298-304 (2000)
Keywords / Suchbegriffe	Phenotypic heterogeneity of growth and psychometric intelligence, Prader-Willi syndrome, determination by trait variance, variable expression of the contiguous gene syndrome
Project leadership and contacts / Projektleitung und Kontakte	Prof. Remo H. Largo remo.largo@kispi.uzh.ch Siegrun Malich (Project Leader)
Funding source(s) / Unterstützt durch	SNF (Personen- und Projektförderung)
Duration of Project / Projektdauer	Jan 1999 to Jun 2001