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Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Jun;33(3):353-6. doi: 10.3760/cma.j.issn.1003-9406.2016.03.017.

[Prenatal diagnosis of 1p36.3 microdeletion in a fetus with complex heart defect].

[Article in Chinese]

Author information

1
Fetal Medicine Center, Department of Gynecology and Obstetrics, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong 510080, China. wujianzhu3140@126.com.

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.

[Indexed for MEDLINE]

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