Phenotypic and genetic analysis of a child carrying a 17q11.2 microdeletion / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 695-698, 2017.
Artigo
em Chinês
| WPRIM
| ID: wpr-344193
ABSTRACT
<p><b>OBJECTIVE</b>To analyze a child with facial abnormalities with combined cytogenetic and molecular techniques and delineate its clinical phenotype.</p><p><b>METHODS</b>Neuropsychological profile of the child was analyzed. Color Doppler, CT and MRI were used for detecting the nodules in the body. Conventional peripheral blood karyotypes of the child and his parents were analyzed with G-banding. Array-comparative genomic hybridization (aCGH) was performed to detect minor structural chromosomal abnormalities.</p><p><b>RESULTS</b>The child had mental retardation, maxillofacial dysmorphism on the right side, and irregular solid nodules on the back. The karyotypes of the child and his parents were all normal, while aCGH has identified a de novo constitutive 1.2 Mb deletion at 17q11.2 in the child. The aCGH results of his parents were normal.</p><p><b>CONCLUSION</b>The de novo 17q11.2 microdeletion probably underlies the facial abnormalities and neurofibromatosis in the patient.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
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Cromossomos Humanos Par 17
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Bandeamento Cromossômico
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Deleção Cromossômica
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Anormalidades Maxilofaciais
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Hibridização Genômica Comparativa
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Síndrome de Smith-Magenis
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Genética
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Cariotipagem
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Deficiência Intelectual
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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