A Case of Developmental Delay and Congenital Anomalies Associated with 1q42.12q44 Terminal Duplication and 7p22.3 Terminal Deletion

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Published Apr 30, 2026
DOI: https://doi.org/10.18103/mra.v14i4.7345

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Main Article Content

Paul J Benke

Abstract

We report a child with a 1q42.12q44 terminal duplication and a 7p22.3 terminal deletion detected by chromosomal microarray. He presented with a history of feeding problems, poor weight gain, short stature, mild facial dysmorphic features, pes planus, horseshoe kidney, and mild congenital heart disease. Parental karyotyping showed that the mother was a balanced translocation carrier between chromosomes 1q and 7p, (46,XX,t(1;7)(q42.1;p22). This combination of chromosomal abnormalities has not been previously reported. The case is notable for its clinical features as well as a potential underlying mechanism of lowered chromosomal breakage and translocation of chromosome arms secondary to excess chromosomal fragile sites on 1q42 and 7p22.3.

Keywords: Chromosome translocation, developmental delay, chromosome fragile site

Article Details

How to Cite
BENKE, Paul J. A Case of Developmental Delay and Congenital Anomalies Associated with 1q42.12q44 Terminal Duplication and 7p22.3 Terminal Deletion. Medical Research Archives, [S.l.], v. 14, n. 4, apr. 2026. ISSN 2375-1924. Available at: <https://esmed.org/MRA/mra/article/view/7345>. Date accessed: 01 may 2026. doi: https://doi.org/10.18103/mra.v14i4.7345.
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Issue
Vol 14 No 4 (2026): Vol.14 Issue 4 April 2026
Section
Case Reports

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References

1. Morris ML, Baroneza JE, Teixeira P, Medina CT, Cordoba MS, Versiani BR, et al; Partial 1q Duplications and Associated Phenotype. Mol Syndromol. 2016 Feb;6(6):297-303. doi: 10.1159/ 000443599. PMID: 27022331.  

2. Watanabe S, Shimizu K, Ohashi H, Kosaki R, Okamoto N, Shimojima K, et al; Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome. Am J Med Genet A. 2016 Apr;170A(4): 908-17. doi: 10.1002/ajmg.a.37496. PMID: 26782913.  

3. Balasubramanian M, Barber JC, Collinson MN, Huang S, Maloney VK, Bunyan D, Foulds N. Inverted duplication of 1q32.1 to 1q44 characterized by array CGH and review of distal 1q partial trisomy. Am J Med Genet A. 2009 Feb 15;149A(4):793-7. doi: 10.1002/ajmg.a.32463. PMID: 19248177. 

4. Skvortsova L, Perfilyeva A, Bespalova K, Kuzovleva Y, Kabysheva N, Khamdiyeva O. 7p22.3 microdeletion: a case study of a patient with congenital heart defect, neurodevelopmental delay and epilepsy. Orphanet J Rare Dis. 2024 Aug 16;19(1):301. doi: 10.1186/s13023-024-03321-8. PMID: 39152504.

5. Bortotto L, Piovan E, Furlan R, Rivera H, Zuffardi O. Chromosome imbalance, normal phenotype, and imprinting. J Med Genet. 1990 Sep;27(9):582-7. doi: 10.1136/jmg.27.9.582. PMID: 2231652. 

6. Li R, Wang C, Zhang Z, Li D, Li L, Zhao D, Xu Z. Partial trisomy 9p and partial monosomy 7p of an infant inherited from maternal balanced translocation: a case report. BMC Pediatr. 2023 Apr 13;23(1):168. doi: 10.1186/s12887-023-03986-3. PMID: 37046298.

7. Carter CO, Hamerton JL, Polani PE, Gunalp A, Weller SD. Chromosome translocation as a cause of familial mongolism. Lancet. 1960 Sep 24;2(71 52):678-80. doi: 10.1016/s0140-6736(60)91749-9. PMID: 13691131. 

8. San Diego Genome Browser  Chr7:43360-27991 85 (GRCh 38/hg38). 

9. Mastromoro G, Capalbo A, Guido CA, Torres B, Fabbretti M, Traversa A, et al; Small 7p22.3 microdeletion: Case report of Snx8 haploinsufficiency and neurological findings. Eur J Med Genet. 2020 Apr;63(4):103772. doi: 10.1016/j.ejmg.2019.103772. PMID: 31568860.

10. Kohannim O, Peredo J, Dipple KM, Quintero-Rivera F. Clinical findings associated with a de novo partial trisomy 10p11.22p15.3 and monosomy 7p22.3 detected by chromosomal microarray analysis. Case Rep Genet. 2011;2011:131768. doi: 10.1155/2011/131768. PMID: 23074670.

11. Schmidt B, Udink ten Cate F, Weiss M, Koehler U. Cardiac malformation of partial trisomy 7p/monosomy 18p and partial trisomy 18p/ monosomy 7p in siblings as a result of reciprocal unbalanced malsegregation--and review of the literature. Eur J Pediatr. 2012 Jul;171(7):1047-53. doi: 10.1007/s00431-012-1682-z. PMID: 22302461.

12. Stinson BM, Loparo JJ. Repair of DNA Double-Strand Breaks by the Nonhomologous End Joining Pathway. Annu Rev Biochem. 2021 Jun 20;90:137-164. doi: 10.1146/annurev-biochem-080320-1103 56. PMID: 33556282.

13. Rocchi A, Pelliccia F. Synergistic effect of DAPI and thymidylate stress conditions on the induction of common fragile sites. Cytogenet Cell Genet. 1988;48(1):51-4. doi: 10.1159/000132585. PMID: 3180848.

14. Shaw CJ, Lupski JR. Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. Hum Mol Genet. 2004 Apr 1;13 Spec No 1:R57-64. doi: 10.1093/hmg/ddh073. PMID: 14764619.