Phenotypic and genetic analysis of a child featuring multiple malformations due to chromosome 14q deletion / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 361-364, 2016.
Article
en Zh
| WPRIM
| ID: wpr-247672
Biblioteca responsable:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To analyze a child with mental retardation, growth retardation and language development disorders.</p><p><b>METHODS</b>Conventional G-banding analysis was performed on chromosomes cultivated from peripheral blood samples derived from the child and her parents. Array-comparative genomic hybridization (aCGH) was performed to detect minor structural chromosomal abnormalities, and the result was confirmed by short tandem repeats (STR) analysis.</p><p><b>RESULTS</b>For the child and her parents, no karyotypic abnormality was detected. However, aCGH analysis has identified a 14q22.1 deletion in the child. The microdeletion, with a size of 2.9 Mb was confirmed by STR analysis.</p><p><b>CONCLUSION</b>The 2.9 Mb chromosomal microdeletion probably underlies the mental retardation, growth retardation and language development disorders in the child.</p>
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Fenotipo
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Anomalías Múltiples
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Cromosomas Humanos Par 14
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Deleción Cromosómica
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Repeticiones de Microsatélite
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Hibridación Genómica Comparativa
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Genética
Tipo de estudio:
Prognostic_studies
Límite:
Child, preschool
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Female
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Humans
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2016
Tipo del documento:
Article