Case Report
Accepted on 12 Feb 2025
Lessons from a normal infant with uniparental isodisomy of chromosome 21: A Case Report and Review
in Molecular Cytogenetics
Frontiers in Genetics
doi 10.3389/fgene.2025.1544565
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21 articles
Articles
Original Research
Published on 13 Jan 2025
Improving prenatal diagnosis with combined karyotyping, CNV-seq and QF-PCR: a comprehensive analysis of chromosomal abnormalities in high-risk pregnancies
in Molecular Cytogenetics
Frontiers in Genetics
doi 10.3389/fgene.2024.1517270
- 650 views
Original Research
Published on 15 Oct 2024
Prenatal diagnosis and postnatal follow-up of 15 fetuses with 16p13.11 microduplication syndrome
in Molecular Cytogenetics
Frontiers in Genetics
doi 10.3389/fgene.2024.1486974
- 1,247 views
Case Report
Published on 19 Sep 2024
Case report: A novel FBXW7 gene variant causes global developmental delay
in Molecular Cytogenetics
Frontiers in Genetics
doi 10.3389/fgene.2024.1436462
- 910 views
Original Research
Published on 29 Aug 2024
Prenatal diagnosis of the recurrent 1q21.1 microdeletions in fetuses with ultrasound anomalies and review of the literature
in Molecular Cytogenetics
Frontiers in Genetics
doi 10.3389/fgene.2024.1448341
- 1,329 views
Case Report
Published on 18 Jul 2024
Prenatal diagnosis of dicentric chromosome X mosaicism: a case report and review
in Molecular Cytogenetics
Frontiers in Genetics
doi 10.3389/fgene.2024.1436469
- 995 views
Original Research
Published on 04 Jul 2024
Unraveling chromosomal and genotoxic damage in individuals occupationally exposed to coal from underground mining
in Molecular Cytogenetics
Frontiers in Genetics
doi 10.3389/fgene.2024.1422938
- 1,349 views
Editorial
Published on 17 Apr 2024
Editorial: Co-occurrence of numerical and structural aberration—small supernumerary marker chromosomes and B-chromosomes
in Molecular Cytogenetics
Frontiers in Genetics
doi 10.3389/fgene.2024.1408674
- 738 views
Original Research
Published on 16 Apr 2024
Cytogenomic characterization of small supernumerary marker chromosomes in patients with pigmentary mosaicism
in Molecular Cytogenetics
Frontiers in Genetics
doi 10.3389/fgene.2024.1356786
- 2,028 views
Original Research
Published on 11 Mar 2024
A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication
in Molecular Cytogenetics
Frontiers in Genetics
doi 10.3389/fgene.2024.1331066
- 3,877 views
Original Research
Published on 07 Mar 2024
High-resolution genomic profiling and locus-specific FISH in subcutaneous and visceral adipose tissue of obese patients
in Molecular Cytogenetics
Frontiers in Genetics
doi 10.3389/fgene.2023.1323052
- 1,539 views
Opinion
Published on 28 Feb 2024
Sometimes karyotype resolves the case!
in Molecular Cytogenetics
Frontiers in Genetics
doi 10.3389/fgene.2024.1371166
- 1,898 views
Case Report
Published on 23 Feb 2024
A maternally derived complex small supernumerary marker chromosome involving chromosomes 8 and 14: case report and review of the literature
in Molecular Cytogenetics
Frontiers in Genetics
doi 10.3389/fgene.2024.1331676
- 2,131 views
Case Report
Published on 06 Feb 2024
Case report: A new de novo 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature review
in Molecular Cytogenetics
Frontiers in Genetics
doi 10.3389/fgene.2023.1315291
- 1,666 views
Brief Research Report
Published on 08 Jan 2024
Small supernumerary marker chromosomes in prenatal diagnosis—molecular characterization and clinical outcomes
in Molecular Cytogenetics
Frontiers in Genetics
doi 10.3389/fgene.2023.1326985
- 1,528 views
Original Research
Published on 15 Dec 2023
Small supernumerary marker chromosomes derived from human chromosome 11
in Molecular Cytogenetics
Frontiers in Genetics
doi 10.3389/fgene.2023.1293652
- 2,313 views