Phenotypic and genetic analysis of a girl with multiple congenital deformities due to 2p15-p16.1 microdeletion syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 823-826, 2015.
Artigo
em Chinês
| WPRIM
| ID: wpr-287980
ABSTRACT
<p><b>OBJECTIVE</b>To determine the origin of chromosomal aberration for a girl with mental retardation and multiple congenital deformities.</p><p><b>METHODS</b>The karotypes of the girl and her parents were analyzed with routine G-banding .Their genomic DNA was also analyzed with array comparative genomic hybridization (aCGH). Short tandem repeats (STR) were used to confirm the results of aCGH.</p><p><b>RESULTS</b>There were no karyotypic abnormality detected at cytogenetic level. aCGH identified a de novo 1.28 Mb deletion at 2p15-p16.1 in the girl. The results of the STR confirmed the deletion affected the maternal chromosome.</p><p><b>CONCLUSION</b>The de novo interstitial 2p15-p16.1 deletion may cause the mental retardation and multiple congenital deformities. chr260.5-61.5 Mb may be the minimal common region of 2p15-p16.1 microdeletion syndrome.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Síndrome
/
Anormalidades Múltiplas
/
Cromossomos Humanos Par 2
/
Bandeamento Cromossômico
/
Deleção Cromossômica
/
Repetições de Microssatélites
/
Transtornos Cromossômicos
/
Diagnóstico
/
Hibridização Genômica Comparativa
Tipo de estudo:
Estudo diagnóstico
Limite:
Adolescente
/
Feminino
/
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2015
Tipo de documento:
Artigo
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