Phenotypic and genetic analysis of a boy with partial trisomy of 1q / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 398-401, 2017.
Artigo
em Chinês
| WPRIM
| ID: wpr-335117
ABSTRACT
<p><b>OBJECTIVE</b>To delineate the nature and origin of chromosomal aberration in a boy with mental retardation and multiple congenital deformities.</p><p><b>METHODS</b>The karotypes of the proband and his parents were analyzed with routine G-banded chromosomal analysis. Genomic DNA was also analyzed with array comparative genomic hybridization (aCGH) assay.</p><p><b>RESULTS</b>The karyotype of the proband was 46,XY,add(1)(p36.3). No karyotypic abnormality was detected in either parent. aCGH has identified a de novo 25.1 Mb duplication at 1q42q44 in the proband.</p><p><b>CONCLUSION</b>The de novo 1q42q44 duplication, which may be due to non-allelic homologous recombination mediated by low copy repeats, probably underlies the abnormalities in the proband.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Trissomia
/
Cromossomos Humanos Par 1
/
Testes Genéticos
/
Bandeamento Cromossômico
/
Genética
/
Cariotipagem
Tipo de estudo:
Estudo prognóstico
Limite:
Criança, pré-escolar
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2017
Tipo de documento:
Artigo
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