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Case Reports
. 2022 Apr;10(4):e1900.
doi: 10.1002/mgg3.1900. Epub 2022 Feb 21.

A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay

Giavanna Verdi  1 , Dong Li  2 , Sarah H Elsea  3 , Beverly Nelson  4 , Elizabeth J Bhoj  2 , Hakon Hakonarson  2 , Katherine R Yearwood  5 , Sharmila Upadhya  1 , Sarah Gluschitz  6 , Janice L Smith  3 , Andrew K Sobering  1   7   8
Affiliations
Case Reports

A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay

Giavanna Verdi et al. Mol Genet Genomic Med. 2022 Apr.

Abstract

Background: Individuals with various sized terminal duplications of chromosome 5p or terminal deletions of chromosome 18q have been described. These aberrations may cause congenital malformations and intellectual disability of varying severity.

Methods: Via an international collaborative effort, we obtained a cytogenetic diagnosis for a 5-year-old boy of Afro-Caribbean ancestry who has global developmental delay, dysmorphology, hypotonia, feeding difficulties, bilateral club feet, and intellectual disability.

Results: Conventional G-banded karyotyping showed additional chromatin of unknown origin on the long arm of chromosome 18. SNP microarray confirmed the loss of ~6.4 Mb from chromosome 18q: arr[hg19] 18q22.3-q23(71,518,518-77,943,115)x1. The source of the additional chromatin was determined from the microarray to be ~32 Mb from the short arm of chromosome 5 (arr[hg19] 5p13.3-p15.33(51,045-32,062,984)x3). The unbalanced translocation was verified by fluorescent in situ hybridization (FISH). Both parents are healthy and have normal karyotypes suggesting that this abnormality arose de novo in the proband, although gonadal mosaicism in a parent cannot be excluded.

Conclusion: The combination of clinical features in this individual is most likely due to the partial deletion of 18q and partial duplication of 5p, which to our knowledge has not been previously described.

Keywords: developing economy; dysmorphology; global developmental delay; low-income nation; middle-income nation; resource-limited community; unbalanced translocation.

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Conflict of interest statement

The authors have no conflict of interest to declare.

Figures

FIGURE 1
FIGURE 1
Pedigree of the family. There is a maternal history of two individuals with infertility and one individual with uncharacterized ID
FIGURE 2
FIGURE 2
Photos of the affected individual. The top panel shows him at 1 year of age, and the lower panel shows him at 4 years old
FIGURE 3
FIGURE 3
Cytogenetic analysis. (a) Karyotype shows the addition of unknown content on chromosome 18 with karyotype 46,XY,add(18)(q21.3). (b) Chromosome microarray analysis (hg19) shows an approximate 6.4 Mb deletion from chromosome 18q and an approximate 32 Mb duplication on chromosome 5p. (c) FISH confirms that the duplicated material originates from chromosome 5. (d) An ideogram constructed from the breakpoints estimated by CMA and the appropriate karyotype description [46,XY,der(18)t(5;18)(p13.3;q22.3)] shows the involvement of chromosome 5 (http://www.cydas.org/)
See this image and copyright information in PMC

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