Pure duplication 1q41-qter: Further delineation of trisomy 1q syndromes
Tipo
Artigo
Data de publicação
2008
Periódico
American Journal of Medical Genetics, Part A
Citações (Scopus)
27
Autores
Kulikowski L.D.
Bellucco F.T.S.
Nogueira S.I.
Christofolini D.M.
Smith M.D.A.C.
De Mello C.B.
Brunoni D.
Melaragno M.I.
Bellucco F.T.S.
Nogueira S.I.
Christofolini D.M.
Smith M.D.A.C.
De Mello C.B.
Brunoni D.
Melaragno M.I.
Orientador
Título da Revista
ISSN da Revista
Título de Volume
Membros da banca
Programa
Resumo
Several authors have attempted to characterize the partial 1q trisomy syndrome, reporting clinical features such as mental retardation, macrocephaly, large fontanels, prominent forehead, broad flat nasal bridge, high-arched palate, micro/retrognathia, low-set ears, and cardiac defects. However, defining the partial trisomy 1q syndrome is difficult, because it is a rare chromosomal abnormality and in most instances the trisomy 1q is combined with partial monosomy of another autosomal segment. We report on the clinical and molecular cytogenetic study of a patient who presents pure partial 1q duplication. This is the first case of pure duplication 1q41-qter in the literature. © 2008 Wiley-Liss, Inc.