[Genetic analysis of a fetus with multiple malformations caused by complex translocations of four chromosomes].

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 in situ 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

SUBMITTER: Luo Y 

PROVIDER: S-EPMC8800750 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature