1.
Eur J Pediatr
; 166(10): 1067-8, 2007 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17136353
Assuntos
Infecções por Helicobacter/complicações , Helicobacter pylori , Púrpura Trombocitopênica Idiopática/complicações , Adolescente , Criança , Pré-Escolar , Feminino , Helicobacter pylori/isolamento & purificação , Humanos , Masculino , Contagem de Plaquetas , Púrpura Trombocitopênica Idiopática/imunologia
2.
Am J Med Genet
; 110(4): 353-8, 2002 Jul 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-12116209
RESUMO
A patient with a multiple congenital anomalies/mental retardation (MCA/MR) syndrome had an unbalanced translocation (3;5)(q26.1;p14), causing partial 5p monosomy and partial 3q trisomy. The phenotype observed in this patient results from the combination of those described in the isolated dup(3q) and del(5p) syndromes. Some clinical features of this patient are shared by the Smith-Lemli-Opitz syndrome (SLOS), a well-known MCA/MR syndrome due to the deficiency of 7-dehydrocholesterol reductase (DHCR7). We review the previously reported cases of chromosomal anomalies with clinical features suggesting SLOS.
