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.
Article
en Zh
| WPRIM
| ID: wpr-344193
Biblioteca responsable:
WPRO
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:
1
Base de datos:
WPRIM
Asunto principal:
Fenotipo
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Cromosomas Humanos Par 17
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Bandeo Cromosómico
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Deleción Cromosómica
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Anomalías Maxilofaciales
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Hibridación Genómica Comparativa
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Síndrome de Smith-Magenis
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Genética
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Cariotipificación
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Discapacidad Intelectual
Tipo de estudio:
Prognostic_studies
Límite:
Child, preschool
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Humans
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Male
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2017
Tipo del documento:
Article