Detection of 9p partial trisomy using array-based comparative genomic hybridization / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 52-55, 2012.
Artículo
en Chino
| WPRIM
| ID: wpr-295534
ABSTRACT
<p><b>OBJECTIVE</b>To detect chromosomal aberrations in a child with developmental delay and speech and language disorders in order to explore the underlying genetic causes of congenital malformation, and to investigate the feasibility of array-based comparative genomic hybridization (array-CGH) for molecular genetic diagnosis.</p><p><b>METHODS</b>G-banding and array-CGH were applied to characterize the genetic abnormality in the three family members.</p><p><b>RESULTS</b>G-banding analysis revealed the affected child and the healthy mother are both carriers of inv(9)(p13q13), while the child has carried a chromosome fragment derived from chromosome 13. Array-CGH analysis indicated the derivative chromosome fragment has originated from 9p with breakpoints at around 9p13.1-p24.3.</p><p><b>CONCLUSION</b>Trisomy 9p13.1-p24.3 may be the cause of congenital malformation in the child. For its high resolution and high accuracy, array-CGH is a powerful tool for genetic analysis.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Trisomía
/
Cromosomas Humanos Par 9
/
Aberraciones Cromosómicas
/
Diagnóstico
/
Hibridación Genómica Comparativa
/
Genética
/
Métodos
Tipo de estudio:
Estudio diagnóstico
Límite:
Child, preschool
/
Femenino
/
Humanos
/
Masculino
/
Embarazo
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2012
Tipo del documento:
Artículo
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