Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2024;78(4):309-312.
doi: 10.5455/medarh.2024.78.309-312.

Unbalanced Translocation in a Phenotypically Normal Male Patient Detected by Karyotyping and Array-comparative Genomic Hybridization

Mai Trong Hung  1 , Dinh Thuy Linh  1 , Do Khac Huynh  1 , Than Thi Thu Canh  2 , Phan Thi Huyen Thuong  2   3 , Do Tuan Dat  4   5
Affiliations
Case Reports

Unbalanced Translocation in a Phenotypically Normal Male Patient Detected by Karyotyping and Array-comparative Genomic Hybridization

Mai Trong Hung et al. Med Arch. 2024.

Abstract

Background: nbalanced translocations can cause developmental delay, intellectual disability, growth problems, dysmorphic features, and congenital anomalies Unbalanced chromosome rearrangements that are cytogenetically visible account for ~3% of all recognized chromosome abnormalities. A lot of unbalanced translocations have been reported.

Objective: Here, we present an individual who has an unbalanced translocation caused by deletion of the terminal region of chromosome 5p encompassing 170 kb coupled with a 11.4 Mb duplication of the terminal region of chromosome 18q..

Case presentatioin: We report the first case of unbalanced translocation in a phenotypically normal male after performing clinical phenotyping, cytogenetic analyses and then array-comparative genomic hybridization after detection of unbalanced translocation in his fetus. Conventional G-banded karyotyping showed additional chromatin of unknown origin on the long arm of chromosome 5: 46,XX,add(5)(p15.3). The microarray result confirmed an unbalanced translocation with the loss of ~170kb of chromosome 5p and duplication of 11.4Mb of the long arm of chromosome 18 (arr[GRCh37]5p15.33(22149_192836)x1, 18q22.1q23(66590438_78012829)x3 of a normal adult.

Conclusion: This is the first time we found the unbalanced translocation in a totally healthy man to our knowledge. Therefore, the karyotypes of the parents should be indicated whenever the unbalanced translocation detected in a fetus to have more data for prognosis.

Keywords: Array-comparative genomic hybridization; Karyotyping; Unbalanced translocation.

PubMed Disclaimer

Conflict of interest statement

The authors declared that they have no conflicts of interest in this work.

Figures

Figure 1.
Figure 1.. The karyotyping of the fetus: 46,XX,add(5)(p15.3)
Figure 2.
Figure 2.. Microarray results and karyotyping of the fetus’s father
See this image and copyright information in PMC

References

    1. Ishibashi M, Watanabe T, Kyozuka H, Yamaguchi A, Sato K, Sato M, Go H, Fujimori K. Perinatal diagnosis of a fetus with an unbalanced translocation 46,XY,der(10)t(6;10)(p22;q26.1) with multiple malformations:a case report and literature review. Fukushima J Med Sci. 2021 Aug 27;67(2):83–88. doi: 10.5387/fms.2020-28. Epub 2021 May 15. - DOI - PMC - PubMed
    1. Vogels A, Devriendt K, Vermeesch JR, Van Dael R, Marynen P, Dewaele P, Hageman J, Holvoet M, Fryns JP. Cryptic translocation t(5;18) in familial mental retardation. Ann Genet. 2000 Jul-Dec;43(3-4):117–123. doi: 10.1016/s0003-3995(00)01024-8. - DOI - PubMed
    1. Verdi G, Li D, Elsea SH, Nelson B, Bhoj EJ, Hakonarson H, Yearwood KR, Upadhya S, Gluschitz S, Smith JL, Sobering AK. A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay. Mol Genet Genomic Med. 2022 Apr;10(4):e1900. doi: 10.1002/mgg3.1900. Epub 2022 Feb 21. - DOI - PMC - PubMed
    1. Chen CP, Chern SR, Wang TH, Hsueh DW, Lee CC, Town DD, Wang W, Ko TM. Prenatal diagnosis and molecular cytogenetic analysis of partial monosomy 10q (10q25.3-->qter) and partial trisomy 18q (18q23-->qter) in a fetus associated with cystic hygroma and ambiguous genitalia. Prenat Diagn. 2005 Jun;25(6):492–496. doi: 10.1002/pd.1179. - DOI - PubMed
    1. Quiroga R, Monfort S, Oltra S, Ferrer-Bolufer I, Roselló M, Mayo S, Martinez F, Orellana C. Partial duplication of 18q including a distal critical region for Edwards Syndrome in a patient with normal phenotype and oligoasthenospermia: case report. Cytogenet Genome Res. 2011;133(1):78–83. doi: 10.1159/000322719. Epub 2011 Jan 13. - DOI - PubMed

Publication types

LinkOut - more resources