Dataset Information

[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; q26.1) 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.

SUBMITTER: Luo Y

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

REPOSITORIES: biostudies-literature

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Publications

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

Luo Yuqin Y Shen Min M Sun Yixi Y Qian Yeqing Y Wang Liya L Yu Jialing J Hu Junjie J Jin Fan F Dong Minyue M

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 20190601 4

<h4>Objective</h4>To conduct genetic analysis in a fetus with complex translocation of four chromosomes.<h4>Methods</h4>G-banded chromosome karyotype analysis, single nucleotide polymorphism array (SNP array) and fluorescence <i>in situ</i> hybridization (FISH) were performed in a fetus with multiple malformations. Peripheral blood chromosome karyotype and FISH were also carried out for the parents.<h4>Results</h4>The fetal amniotic fluid karyotype was 46, XY, t(12; 13)(q22; q32). SNP array anal ...[more]

PMID: 31901043

Similar Datasets

Project description:BackgroundCampylobacter fetus subspecies fetus (CFF) is an important pathogen for both cattle and humans. We performed a systematic epidemiological and clinical study of patients and evaluated the genetic relatedness of 17 human and 17 bovine CFF isolates by using different genotyping methods. In addition, the serotype, the dissemination of the genomic island containing a type IV secretion system (T4SS) and resistance determinants for tetracycline and streptomycin were also evaluated.MethodsThe isolates from patients diagnosed with CFF infection as well as those from faecal samples of healthy calves were genotyped using pulsed-field gel electrophoresis (PFGE), multilocus sequence typing (MLST), as well as single locus sequence typing (SLST) targeting cmp1 and cmp2 genes encoding two major outer membrane proteins in CFF. The presence of the genomic island and identification of serotype was determined by PCRs targeting genes of the T4SS and the sap locus, respectively. Tetracycline and streptomycin resistance phenotypes were determined by minimal inhibitory concentration. Clinical data obtained from medical records and laboratory data were supplemented by data obtained via telephone interviews with the patients and treating physicians.ResultsPFGE analysis defined two major clusters; cluster A containing 16 bovine (80 %) isolates and cluster B containing 13 human (92 %) isolates, suggesting a host preference. Further genotypic analysis using MLST, SLST as well as sap and T4SS PCR showed the presence of genotypically identical isolates in cattle and humans. The low diversity observed within the cmp alleles of CFF corroborates the clonal nature of this pathogen. The genomic island containing the tetracycline and streptomycin resistance determinants was found in 55 % of the isolates in cluster A and correlated with phenotypic antibiotic resistance.ConclusionsMost human and bovine isolates were separated on two phylogenetic clusters. However, several human and bovine isolates were identical by diverse genotyping methods, indicating a possible link between strains from these two hosts.

Dataset Information

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

Objective

Methods

Results

Conclusions

Publications

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

Similar Datasets

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