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

Jianzhu WU; Zhiming HE; Shaobin LIN; Yingjun XIE; Baojiang CHEN; Junhong CHEN

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

VernacularTitle:一例心脏缺陷胎儿染色体lp36.3微缺失的产前诊断
Author: Jianzhu WU ^{1
,

2} ; Zhiming HE ; Shaobin LIN ; Yingjun XIE ; Baojiang CHEN ; Junhong CHEN
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@
2. com.
Publication Type:Case Reports
MeSH: Adult; Chromosome Deletion; Chromosomes, Human, Pair 1; Female; Heart Defects, Congenital; genetics; Humans; In Situ Hybridization, Fluorescence; Karyotyping; Polymorphism, Single Nucleotide; Pregnancy; Prenatal Diagnosis
From: Chinese Journal of Medical Genetics 2016;33(3):353-356
CountryChina
Language:Chinese
Abstract:
OBJECTIVETo analyze a fetus presenting with complex heart defect and assess the recurrence risk.
METHODSConventional karyotyping, fluorescence in situ hybridization (FISH) and single nucleotide polymorphism-based array (SNP-array) were used to analyze the fetus and his parents.
RESULTSSNP-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.
CONCLUSIONSNP-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.