Genetic analysis of a child with cleidocranial dysplasia and 6q21-q22.31 microdeletion / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 253-256, 2018.
Artigo
em Chinês
| WPRIM
| ID: wpr-687966
ABSTRACT
<p><b>OBJECTIVE</b>To carry out genetic analysis on a child with developmental delay and multiple malformation.</p><p><b>METHODS</b>The karotypes of the child and her parents were analyzed with routine chromosomal G-banding. Their genomic DNA was analyzed with array comparative genomic hybridization (aCGH).</p><p><b>RESULTS</b>The karyotype of the proband was determined as 46,XX,del(6)(q22),inv(6)(p21.1q21), while no karyotypic abnormality was detected in her parents. aCGH has identified in the child a de novo 800 kb deletion encompassing the RUNX2 gene at 6p21.1 and a de novo 11.79 Mb deletion at 6q21-q22.31.</p><p><b>CONCLUSION</b>Both of the de novo deletions are pathogenic. Deletion of the RUNX2 gene probably underlies the cleidocranial dysplasia in the patient, while the 6q21-q22.31 deletion may result in malformation of the brain.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Cromossomos Humanos Par 6
/
Testes Genéticos
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Bandeamento Cromossômico
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Deleção Cromossômica
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Displasia Cleidocraniana
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Subunidade alfa 1 de Fator de Ligação ao Core
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Hibridização Genômica Comparativa
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Genética
/
Cariotipagem
Tipo de estudo:
Estudo prognóstico
Limite:
Criança, pré-escolar
/
Feminino
/
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2018
Tipo de documento:
Artigo
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