Genetic analysis of a fetus with multiple malformations caused by complex translocations of four chromosomes.
- Author:
Yuqin LUO
1
;
Min SHEN
1
;
Yixi SUN
1
;
Yeqing QIAN
1
;
Liya WANG
1
;
Jialing YU
1
;
Junjie HU
1
;
Fan JIN
1
;
Minyue DONG
1
Author Information
1. Key Laboratory of Reproductive Genetics, Ministry of Education, Department of Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, Hangzhou 310006, China.
- Publication Type:Case Reports
- MeSH:
Chromosome Aberrations;
Female;
Fetus;
abnormalities;
Humans;
In Situ Hybridization, Fluorescence;
Karyotyping;
Male;
Polymorphism, Single Nucleotide;
Translocation, Genetic
- From:
Journal of Zhejiang University. Medical sciences
2019;48(4):397-402
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To conduct genetic analysis in a fetus with complex translocation of four chromosomes.
METHODS:G-banded chromosome karyotype analysis, single nucleotide polymorphism array (SNP array) and fluorescence hybridization (FISH) were performed in a fetus with multiple malformations. Peripheral blood chromosome karyotype and FISH were also carried out for the parents.
RESULTS:The fetal amniotic fluid karyotype was 46, XY, t(12; 13)(q22; q32). SNP array analysis showed that there were 20 192 kb duplication at 1q42.13q44 and 13 293 kb deletion at 15q26.1q26.3 in the fetus. The results of karyotype and SNP array were inconsistent. FISH analyses on the parental peripheral blood samples demonstrated that the mother was a cryptic 46, XX, t(1; 15)(q42.1; q26.1) translocation. The fetus had inherited 46, XY, t(12; 13)(q22; q32) from his father and der(15)t(1; 15)(q42.1; q26.1) from his mother.
CONCLUSIONS:The 1q42.13q44 duplication and 15q26.1q26.3 deletion may have contributed to the abnormal sonographic features of the fetus. The combination of cytogenetic, SNP array and FISH techniques was beneficial for providing an accurate genetic counseling.
