RESUMO
Hall et al. (2010) describe a boy with mosaic trisomy of the proximal part of 19q, with obesity, macrocephaly and global developmental delay. The patient is interesting with regard to his cytogenetic abnormality, which is smaller than those previously reported, and does not include the candidate obesity and insulin-resistance genes identified by other authors (Zung et al., 2007; Davidsson et al., 2010) as possible causes of the overweight/obesity seen in four of five previously documented patients. This suggests that a novel obesity locus may reside in the duplicated region 19q13.11q13.2. We present a phenotypically similar boy with intrachromosomal insertion of material derived from proximal 19q into proximal 19p, causing mosaic trisomy 19q12q13.2, and consider the role of USF2, a master transcriptional regulator of metabolic genes, in 19q phenotypes.
Assuntos
Trissomia/genética , Fatores Estimuladores Upstream/genética , Índice de Massa Corporal , Pré-Escolar , Aberrações Cromossômicas , Cromossomos Humanos Par 19/genética , Humanos , Transtornos do Desenvolvimento da Linguagem/genética , Masculino , Megalencefalia/genéticaRESUMO
We report an 8-month-old girl with extreme microcephaly, lissencephaly, tetralogy of Fallot and Hirschsprung disease. She has a history of infantile spasms with developmental stagnation. Various diagnoses were considered but none seem to fit her clinical presentation. This combination of findings has not been described in the past and we suggest that this may be a previously undescribed neurodevelopmental syndrome resulting from a global failure of neuronal migration.