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Clinical and genetic features of ring chromosome 13 syndrome: an analysis of one case / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics ; (12): 485-489, 2018.
Artículo en Chino | WPRIM | ID: wpr-689602
ABSTRACT
A girl aged 5 months was admitted due to developmental delay. Physical examination showed delayed physical development, unusual facies (microcephalus, hypertelorism, low-set ears, wide nasal bridge, and short philtrum), and an absence of the labium minus at one side. The peripheral blood karyotype was 46,XX,r(13)(p11q33)[82]/45,XX,-13[10]/46,XX,r(13;13)(p11q33;p11q33)[8], and array-based comparative genomic hybridization showed an 87.5 Mb duplication in 13q11q33.2 region and an 8.2 Mb deletion in 13q33.2q34 region. Fluorescence in situ hybridization showed terminal depletion of the long arm of the ring chromosome 13. The girl was diagnosed with ring 13 syndrome. This syndrome has various clinical phenotypes and is closely associated with the amount and site of the loss of genetic material in chromosomal band and different rates of chimerism.
Asunto(s)
Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Fenotipo / Cromosomas en Anillo / Trisomía / Cromosomas Humanos Par 13 / Deleción Cromosómica / Hibridación Genómica Comparativa / Genética Límite: Femenino / Humanos / Lactante Idioma: Chino Revista: Chinese Journal of Contemporary Pediatrics Año: 2018 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Fenotipo / Cromosomas en Anillo / Trisomía / Cromosomas Humanos Par 13 / Deleción Cromosómica / Hibridación Genómica Comparativa / Genética Límite: Femenino / Humanos / Lactante Idioma: Chino Revista: Chinese Journal of Contemporary Pediatrics Año: 2018 Tipo del documento: Artículo