Genotype/phenotype analysis in a male patient with partial trisomy 4p and monosomy 20q due to maternal reciprocal translocation (4;20): A case report

  • Authors:
    • Dong Wu
    • Hui Zhang
    • Qiaofang Hou
    • Hongdan Wang
    • Tao Wang
    • Shixiu Liao
  • View Affiliations

  • Published online on: August 29, 2017     https://doi.org/10.3892/mmr.2017.7390
  • Pages: 6222-6227
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Abstract

Translocations are the most frequent structural aberration in the human genome. Carriers of balanced chromosome rearrangement exhibit an increased risk of abortion and/or a chromosomally‑unbalanced child. The present study reported a clinical and cytogenetic analysis of a child who exhibited typical trisomy 4p and monosomy 20q features, including intellectual disability, delayed speech, tall stature, seizures and facial dysmorphism. The karyotype of the proband exhibited 46, XY, add(20) (q13.3). The karyotype of the mother indicated a balanced translocation karyotype: 46, XX, t(4;20) (p15.2;q13.1). The array‑based comparative genomic hybridization (aCGH) analysis identified partial trisomy of the short arm of chromosome 4 and partial monosomy of distal 20q in the proband due to maternal balanced reciprocal translocation 4;20. The analysis of genotype/phenotype correlation demonstrated that fibroblast growth factor receptor 3 and msh homeobox 1 may be the important genes for 4p duplication, and that potassium voltage‑gated channel subfamily Q member 2, myelin transcription factor 1 and cholinergic receptor nicotinic α4 subunit may be the important genes for 20q deletion. To the best of our knowledge, the present study was the first to report an unbalanced translocation involving chromosomes 4p and 20q. The present study additionally demonstrated that aCGH analysis is able to reliably detect unbalanced submicroscopic chromosomal aberrations.
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November-2017
Volume 16 Issue 5

Print ISSN: 1791-2997
Online ISSN:1791-3004

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Spandidos Publications style
Wu D, Zhang H, Hou Q, Wang H, Wang T and Liao S: Genotype/phenotype analysis in a male patient with partial trisomy 4p and monosomy 20q due to maternal reciprocal translocation (4;20): A case report. Mol Med Rep 16: 6222-6227, 2017
APA
Wu, D., Zhang, H., Hou, Q., Wang, H., Wang, T., & Liao, S. (2017). Genotype/phenotype analysis in a male patient with partial trisomy 4p and monosomy 20q due to maternal reciprocal translocation (4;20): A case report. Molecular Medicine Reports, 16, 6222-6227. https://doi.org/10.3892/mmr.2017.7390
MLA
Wu, D., Zhang, H., Hou, Q., Wang, H., Wang, T., Liao, S."Genotype/phenotype analysis in a male patient with partial trisomy 4p and monosomy 20q due to maternal reciprocal translocation (4;20): A case report". Molecular Medicine Reports 16.5 (2017): 6222-6227.
Chicago
Wu, D., Zhang, H., Hou, Q., Wang, H., Wang, T., Liao, S."Genotype/phenotype analysis in a male patient with partial trisomy 4p and monosomy 20q due to maternal reciprocal translocation (4;20): A case report". Molecular Medicine Reports 16, no. 5 (2017): 6222-6227. https://doi.org/10.3892/mmr.2017.7390