| Autor: |
Roggenbuck, Jennifer A., Mendelsohn, Nancy J., Tenenholz, Beverly, Ladda, Roger L., Fink, James M. |
| Zdroj: |
American Journal of Medical Genetics. Part A; 1 May 2004, Vol. 126 Issue: 4 p398-402, 5p |
| Abstrakt: |
Patients with trisomies or duplications of distal 15q have rarely been reported in the literature. Previous authors [Zollino et al., 1999: Am J Med Genet 87:391394] have described a distal 15q trisomy syndrome, including the unusual features of prenatal overgrowth, tall stature, macrocephaly, and craniosynostosis. We report three new patients with a duplication of 15q24-q26.3; features common to the two surviving patients include ptosis, small size, and developmental delay. None of these patients had craniosynostosis or overgrowth. We propose that the previously described distal 15q trisomy syndrome [Zollino et al., 1999: Am J Med Genet 87:391394] may result from specific disruption of a gene linked to 15q25, rather than partial trisomy for the region. © 2003 Wiley-Liss, Inc. |
| Databáze: |
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