Reflection of a case misdiagnosed as trisomy 21 syndrome by G-banded chromosomal karyotyping analysis / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1031-1034, 2019.
Artículo
en Chino
| WPRIM
| ID: wpr-776749
ABSTRACT
OBJECTIVE@#To emphasize the clinical significance of copy number variations (CNVs) detection by describing a case misdiagnosed as trisomy 21 syndrome by G-banded chromosomal karyotype analysis.@*METHODS@#A girl with obesity and short stature was diagnosed as trisomy 21 syndrome by G-banded chromosomal karyotype analysis. Considering the discrepancy of her karyotype with her phenotype, genomic CNVs was detected by next-generation sequencing and the result was verified by quantitative PCR (qPCR).@*RESULTS@#A microduplication of 16p11.2 29 642 339-29 775 631 (133.292 kb) was detected. qPCR assay for QPRT and SPN located in the duplicated region confirmed the finding of CNVs assay. Meanwhile, her parents did not present similar duplication in 16p11.2.@*CONCLUSION@#The 16p11.2 microduplication was a novel genomic structural variation in the girl, though it may not be associated with her clinical manifestations. Chromosomal microarray or next-generation sequencing-based CNVs detection can accurately determine the origin of small supernumerary marker chromosome and reduce the chance of misdiagnosis.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Trisomía
/
Cromosomas Humanos Par 21
/
Bandeo Cromosómico
/
Síndrome de Down
/
Diagnóstico
/
Errores Diagnósticos
/
Variaciones en el Número de Copia de ADN
/
Genética
/
Cariotipificación
Tipo de estudio:
Ensayo Clínico Controlado
/
Estudio diagnóstico
Límite:
Femenino
/
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2019
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS