Clinical and genetic analysis of a boy with 9q34.3 microdeletion syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 849-852, 2017.
Artigo
em Chinês
| WPRIM
| ID: wpr-344162
ABSTRACT
<p><b>OBJECTIVE</b>To determine the origin of chromosomal aberration in a boy with mental retardation and multiple congenital malformations.</p><p><b>METHODS</b>The karotypes of the proband and his parents were analyzed with conventional G-banding. Their genomic DNA was analyzed with array comparative genomic hybridization (aCGH).</p><p><b>RESULTS</b>No karyotypic abnormality was detected in the proband and his parents. aCGH has identified a de novo 405 kb deletion at 9q34.3 in the proband, which encompassed the EHMT1 gene and part of CACNA1B gene.</p><p><b>CONCLUSION</b>The de novo 9q34.3 deletion probably underlies the mental retardation and development delay in the boy. EHMT1 may be one of the key genes responsible for 9q34.3 microdeletion syndrome.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Cromossomos Humanos Par 9
/
Bandeamento Cromossômico
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Deleção Cromossômica
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Histona-Lisina N-Metiltransferase
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Anormalidades Craniofaciais
/
Hibridização Genômica Comparativa
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Genética
/
Cardiopatias Congênitas
/
Cariotipagem
/
Deficiência Intelectual
Tipo de estudo:
Estudo prognóstico
Limite:
Criança
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2017
Tipo de documento:
Artigo
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