Confirmation of a maternal cryptal balanced translocation through analysis of a fetus using microarray / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 69-72, 2015.
Article
en Zh
| WPRIM
| ID: wpr-239533
Biblioteca responsable:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To analyze a fetus with heart defects and to assess the recurrence risk for her family.</p><p><b>METHODS</b>Single nucleotide polymorphism-based arrays (SNP-Array) analysis using Affymetrix Genome Wide Human SNP CytoHD was performed to analyze the fetus and her parents. Karyotype analysis was also carried out.</p><p><b>RESULTS</b>SNP-Array has detected a 14.5 Mb duplication at 9p and a 14.7 Mb deletion at 11q. Karyotype analysis indicated that the fetus' mother has a karyotype of 46, XX, t(9;11) (p23;q24). Therefore, the fetus has inherited a derivative chromosome 11 derived from the maternal translocation, and her karyotype was 46, XX, der(11) t(9;11) (p23;q24) mat.</p><p><b>CONCLUSION</b>SNP-Array combined with high resolution GTG banding has confirmed that the fetus has a derivative chromosome 11 derived from her mother's balanced translocation, resulting in partial 9p trisomy and partial 11q monosomy. This couple therefore have a high recurrence risk. SNP-Array is capable of detecting small chromosomal imbalance in abnormal fetuses and can pinpoint the breakpoints. It therefore has the advantage for the detection of unbalanced translocation which is difficult to detect with GTG banding, which is important for assessment the recurrence risk for cryptic balanced translocation carriers.</p>
Texto completo:
1
Índice:
WPRIM
Asunto principal:
Translocación Genética
/
Cromosomas Humanos Par 11
/
Análisis de Secuencia por Matrices de Oligonucleótidos
/
Polimorfismo de Nucleótido Simple
/
Genética
/
Cardiopatías Congénitas
/
Cariotipificación
/
Métodos
Límite:
Adult
/
Female
/
Humans
/
Male
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2015
Tipo del documento:
Article