[Prenatal diagnosis of 1p36.3 microdeletion in a fetus with complex heart defect].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 33(3): 353-6, 2016 Jun.
Article
en Zh
| MEDLINE
| ID: mdl-27264820
ABSTRACT
OBJECTIVE:
To analyze a fetus presenting with complex heart defect and assess the recurrence risk.METHODS:
Conventional karyotyping, fluorescence in situ hybridization (FISH) and single nucleotide polymorphism-based array (SNP-array) were used to analyze the fetus and his parents.RESULTS:
SNP-array has detected a 6.9 Mb microdeletion at 1p36.33-p36.23 in the fetus. Chromosomal and FISH analyses indicated that the father of the fetus had a karyotype of 46,XY,t(1;14)(p36.3;p12), and that the fetus has inherited an abnormal chromosome 1 derived from the paternal translocation.CONCLUSION:
SNP-array combined with GTG banding and FISH can help to detect cryptic translocation, microdeletion or microduplication of chromosomes and is valuable to assess the recurrence risk for the affected family.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Diagnóstico Prenatal
/
Cromosomas Humanos Par 1
/
Deleción Cromosómica
/
Cardiopatías Congénitas
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
/
Female
/
Humans
/
Pregnancy
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Asunto de la revista:
GENETICA MEDICA
Año:
2016
Tipo del documento:
Article
País de afiliación:
China