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


CONCLUSIONS
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.
Fetal Medicine Center, Department of Gynecology and Obstetrics, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong 510080, China. wujianzhu3140@126.com.
Jianzhu
J
Wu
Zhiming
Z
He
Shaobin
S
Lin
Yingjun
Y
Xie
Baojiang
B
Chen
Junhong
J
Chen
D000328:Adult; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D011296:Prenatal Diagnosis