1.
Cytogenet Genome Res
; 118(1): 84-6, 2007.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17901705
RESUMO
We report on a novel case of pure partial tandem duplication 1q42q43 confirmed by fluorescence in situ hybridization (FISH). We compare the manifestations of our patient with similar cases previously reported. We conclude that the most common clinical manifestations of trisomy 1q42qter are prenatal and postnatal growth retardation, relative macrocephaly, triangular face, prominent forehead, broad nasal bridge, abnormal philtrum, micro/retrognathia, cardiac defects and mental retardation. We would like to emphasize the importance of the FISH technique in the identification of the duplicated segment.
Assuntos
Cromossomos Humanos Par 1 , Trissomia , Pré-Escolar , Fácies , Feminino , Humanos , Hibridização in Situ Fluorescente , Deficiência Intelectual/genética , Masculino
2.
Revista Internacional de Prótesis Estomatológica;4(3): 217-222,
em Espanhol
| URUGUAIODONTO
| ID: odn-16721