Publication: Phenotypic heterogeneity of growth and psychometric intelligence in Prader-Willi syndrome: Variable expression of a contiguous gene syndrome or parent-child resemblance?
Phenotypic heterogeneity of growth and psychometric intelligence in Prader-Willi syndrome: Variable expression of a contiguous gene syndrome or parent-child resemblance?
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Malich, S., Largo, R. H., Schinzel, A., Molinari, L., & Eiholzer, U. (2000). 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 Medical Genetics, 91(4), 298–304. https://doi.org/10.1002/(sici)1096-8628(20000410)91:4<298::aid-ajmg11>3.0.co;2-g
Abstract
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Abstract
Phenotypic variability 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, head circumference –1.
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- Malich, Siegrun
- Largo, Remo H
- Schinzel, Albert
- Molinari, Luciano
- Eiholzer, Urs
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Citations
Malich, S., Largo, R. H., Schinzel, A., Molinari, L., & Eiholzer, U. (2000). 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 Medical Genetics, 91(4), 298–304. https://doi.org/10.1002/(sici)1096-8628(20000410)91:4<298::aid-ajmg11>3.0.co;2-g
