Cytogenetic analysis of a complex chromosomal imbalance 14q+ in a fetus featuring multiple congenital defects / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 214-217, 2012.
Artículo
en Chino
| WPRIM
| ID: wpr-295504
ABSTRACT
<p><b>OBJECTIVE</b>To analyze chromosomal imbalance in a fetus presenting with congenital heart disease and mild lateral ventriculomegaly, and to investigate the correlation between genotype and phenotype. The etiology of the fetal congenital diseases was determined, and the feasibility of array-based comparative genomic hybridization (array-CGH) application in molecular cytogenetic diagnosis was evaluated.</p><p><b>METHODS</b>Following conventional G-banding analysis, array-based comparative genomic hybridization (array-CGH) was applied to delineate the precise location and size of genomic imbalance.</p><p><b>RESULTS</b>A de novo 46, XY, -14, +der14(q31)? karyotype was identified in the fetus by G-banding analysis. Array-CGH has verified the chromosomal imbalance to be 46, XY, -14, +der(12; 14) (p13; q32.33)del(14) (q32.33→ qter).</p><p><b>CONCLUSION</b>del(14)(q32.33→ qter) is probably the predominant cause of the fetal congenital disease. For its high resolution and accuracy, array-CGH has provided a powerful tool for prenatal diagnosis and genetic counseling.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Diagnóstico Prenatal
/
Anomalías Múltiples
/
Cromosomas Humanos Par 14
/
Aberraciones Cromosómicas
/
Análisis Citogenético
/
Diagnóstico
/
Enfermedades Fetales
/
Genética
/
Métodos
Tipo de estudio:
Estudio diagnóstico
Límite:
Adulto
/
Femenino
/
Humanos
/
Embarazo
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2012
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS