Prenatal diagnosis and molecular cytogenetic analysis of a de novo isodicentric chromosome 18
Annals of Saudi Medicine. 2010; 30 (6): 489-492
en Inglés
| IMEMR
| ID: emr-125721
ABSTRACT
Isodicentric chromosome 18 [idic[18]] is rare structural aberration. We report on a prenatal case described by conventional and molecular cytogenetic analyses. The sonography at 24 weeks of gestation revealed multiple fetal anomalies; radial aplasia and ventricular septal defect were significant features. Routine karyotyping showed a derivative chromosome replacing one normal chromosome 18. the parental karyotypes were normal, indicating that the derivative chromosome was de novo. Array comparative genomic hybridization [array-CGH] revealed 18p11.21[right wards arrow] qter]. Fluorescent in situ hybridization [FISH] confirmed that the derivative chromosome was idic[18]. Our report describes a rare isodicentric chromosome 18 and demonstrates that array-CGH is a useful complementary tool to cytogenetic analysis for reliable identifying derivative chromosome
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Índice:
IMEMR (Mediterraneo Oriental)
Asunto principal:
Diagnóstico Prenatal
/
Radio (Anatomía)
/
Aberraciones Cromosómicas
/
Hibridación Fluorescente in Situ
/
Análisis Citogenético
/
Hibridación Genómica Comparativa
/
Defectos del Tabique Interventricular
Tipo de estudio:
Informe de Casos
Límite:
Femenino
/
Humanos
Idioma:
Inglés
Revista:
Ann. Saudi Med.
Año:
2010
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