Application of single nucleotide polymorphism-based array analysis for prenatal diagnosis of a fetus with de novo derivative chromosome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 678-681, 2016.
Artículo
en Chino
| WPRIM
| ID: wpr-345381
ABSTRACT
<p><b>OBJECTIVE</b>To analyze a fetus with increased nuchal translucency and nuchal fold, and to assess the recurrence risk for her family and provide a basis for prenatal diagnosis.</p><p><b>METHODS</b>G-banded karyotyping and single nucleotide polymorphism-based array (SNP-Array) analysis were used to analyze the fetus and her parents.</p><p><b>RESULTS</b>SNP-Array analysis has detected a 41.04 Mb duplication at Xp22.33p11.4 and a 30.51 Mb duplication at 13q31.3q34 in the fetus. G-banding karyotyping indicated that the fetus had a karyotype of 46,X,der(X)(13qter-13q31Xp11.4-Xp22.3Xp22.3-Xqter). Her parents had normal results for both G-banding karyotyping and SNP-Array analysis, suggesting that the fetus has carried a de novo derivative chromosome X.</p><p><b>CONCLUSION</b>SNP-Array combined with G-banding karyotyping is helpful to confirm the composition and connection type of de novo derivative chromosome, which can improve the accuracy of diagnosis and is valuable for the evaluation of recurrence risk.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Diagnóstico Prenatal
/
Aberraciones Cromosómicas Sexuales
/
Anomalías Congénitas
/
Bandeo Cromosómico
/
Análisis de Secuencia por Matrices de Oligonucleótidos
/
Polimorfismo de Nucleótido Simple
/
Cromosomas Humanos X
/
Duplicación Cromosómica
/
Feto
/
Genética
Tipo de estudio:
Estudio diagnóstico
Límite:
Adulto
/
Femenino
/
Humanos
/
Masculino
/
Embarazo
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2016
Tipo del documento:
Artículo
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