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Expert
Reviews in Molecular Medicine: http://www.expertreviews.org/
Accession information: Vol. 7; Issue 14; 25 July 2005 Abstract
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Comparison of genetic subtypes in Prader–Willi syndrome
Douglas C. Bittel and Merlin G. Butler
| Table 2. Comparison of genetic subtypes in Prader–Willi syndromea | |
| Genetic defect | Characteristics |
|
Typical 15q11-q13 deletion |
Hypopigmentation, homogeneous clinical findings (more-typical facial appearance), lower birth weight, greater birth length (males), more self-injurious behaviour (skin picking), higher pain threshold, greater jigsaw puzzle skills relative to maternal disomy |
| Type I deletion | Increased maladaptive and compulsive behaviour relative to type II and maternal disomy; poorer academic performance relative to type II and maternal disomy |
| Type II deletion | Better adaptive behaviour relative to type I; better social skills relative to type I or maternal disomy |
| Maternal disomy | Shorter course of gavage feeding (females), higher verbal IQ scores, greater numeric calculation skills, superior visual memory, poorer object assembly and visual perceptual skills, increased psychosis relative to typical deletion |
| a For further information on genetic subtypes see Refs 105, 106, 107, 108, 109, 110, 115 and 116. | |
| References cited
in Table 2
105 Roof, E. et al. (2000) Intellectual characteristics of Prader-Willi syndrome: comparison of genetic subtypes. J Intellect Disabil Res 44 ( Pt 1), 25-30, PubMed 106 Cassidy, S.B. et al. (1997) Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15. Am J Med Genet 68, 433-440, PubMed 107 Gunay-Aygun, M. et al. (1997) Delayed diagnosis in patients with Prader-Willi syndrome due to maternal uniparental disomy 15. Am J Med Genet 71, 106-110, PubMed 108 Veltman, M.W. et al. (2004) Prader-Willi syndrome–a study comparing deletion and uniparental disomy cases with reference to autism spectrum disorders. Eur Child Adolesc Psychiatry 13, 42-50, PubMed 109 Gillessen-Kaesbach, G. et al. (1995) Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome. Hum Genet 96, 638-643, PubMed 110 Mitchell, J. et al. (1996) Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: sex specific differences. Am J Med Genet 65, 133-136, PubMed 115 Dykens, E.M. (2002) Are jigsaw puzzle skills ‘spared’ in persons with Prader-Willi syndrome? J Child Psychol Psychiatry 43, 343-352, PubMed 116 Thompson, T. and Butler, M.G. (2003) Prader-Willi syndrome: clinical, behavioral and genetic findings. In Disorders of Development and Learning (3rd edn) (Wolraich, M.L., ed.), pp. 276-281, B.C. Decker, Inc., Hamilton, Ontario, Canada |