Phenotypic and genetic analysis of a boy with inv dup del(8p) / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 581-584, 2021.
Article
en Zh
| WPRIM
| ID: wpr-879631
Biblioteca responsable:
WPRO
ABSTRACT
OBJECTIVE@#To delineate the nature and origin of a chromosomal aberration detected in a boy with mental retardation.@*METHODS@#The proband and his parents were subjected to routine G-banded chromosomal karyotyping and single nucleotide polymorphism array (SNP-array) analysis.@*RESULTS@#The karyotype of the proband was determined as 46, XX, add(8)(p23). No karyotypic abnormality was detected in either of his parents. SNP-array has identified a 34.9 Mb duplication at 8p23.1q11.1 and a 6.78 Mb microdeletion at 8p23.1pter in the proband. No copy number variation was detected in either parent.@*CONCLUSION@#The child was diagnosed with 8p inverted duplication deletion syndrome, which might be induced by non-allelic homologous recombination between olfactory genes in the 8p23.1 region.
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Pruebas Genéticas
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Bandeo Cromosómico
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Hibridación Fluorescente in Situ
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Análisis Citogenético
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Cariotipificación
Límite:
Child
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Humans
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Male
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2021
Tipo del documento:
Article