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Deficiency,transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome. Analysis of seven cases after varying ascertainment |
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| Authors: | M Fraccaro O Zuffardi E Bühler A Schinzel G Simoni R Witkowski E Bonifaci D Caufin G Cignacco N Delendi L Gargantini T Losanowa L Marca E Ullrich V Vigi |
| Institution: | 1. Istituto di Biologia Generale e Genetica Medica, Università, C.P. 217, I-27100, Pavia, Italia 2. Kinderspital, Basel, Switzerland 3. Institut für Medizinische Genetik, Universit?t, Zürich, Switzerland 4. Clinica Ostetrica, Università, Milano, Italia 5. Abteilung für Medizinische Genetik des Bereiches Medizin (Charité), Humboldt-Universit?t, Berlin, Germany 6. Ospedale Civile, Belluno, Italia 7. Ospedale Civile, Pordenone, Italia 8. Clinica Pediatrica IV, Università, Milano, Italia 9. Patologia Neonatale, Ospedale Niguarda, Milano, Italia 10. Istituto di Puericultura e Medicina Neonatale, Università, Ferrara, Italia |
| Abstract: | Seven patients are described who have some or all of the symptoms of Prader-Willi syndrome. They were ascertained by varying criteria starting either from the clinical picture or from the identification of a chromosome abnormality involving the proximal portion of the long arm of chromosome 15. The chromosome abnormalities consisted of two balanced translocations (15;18 and 8;15), three unbalanced ones (15;18, 15;19, and 9;15), and one interstitial deletion of bands 15q11 and q12. The seventh case had an unidentified extra chromosome. These data and a review of the literature led to the conclusion that deficiency, transposition, and even duplication of the region(s) 15q11-q13 may all result in a syndrome which is identifiable with or similar to the Prader-Willi syndrome. |
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