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[Prenatal diagnosis of 1p36.3 microdeletion in a fetus with complex heart defect]
Jianzhu Wu1, Zhiming He, Shaobin Lin
1Fetal Medicine Center, Department of Gynecology and Obstetrics, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong 510080, China. wujianzhu3140@126.com.
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.
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