Abstract
Jacobsen syndrome (JS) is caused by the terminal deletion at the long arm of chromosome 11. It is characterized by growth retardation, intellectual disability, facial dysmorphism, and other congenital abnormalities. The subband 11q24.1 has been confirmed to be the critical region for the typical features of JS. The patient in the current study is a 2-year-old male child with prominent craniofacial abnormalities and congenital heart disease. High-resolution single-nucleotide polymorphism arrays revealed breakage in chromosome 11q beginning at 11q24.2, with complete deletion of the distal portion. We collected all available reports describing patients with breakages at 11q24.1 or 11q24.2, and compared it with the typical features of JS. We found that the phenotype of cleft lip and palate (CLP) was present in both groups of patients with no overlap region in the deletion region (between 11q21-q23 and 11q24.2-qter), which indicated that other genes may be related to CLP in JS.
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Acknowledgements
We thank the patients and their families for participating in this study.
Availability of data and materials. This study was supported by the National Natural Science Foundation of China (81800290 to SJH and 82070244 to TLZ).
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All authors made a significant contribution to the work reported. JDW collected the data and wrote the manuscript. TLZ, SJH, XYG and LYW conducted the treatment. ZPT made all necessary modifications to the manuscript. The final draft was read and approved by all authors.
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Corresponding editor: Ashwin Dalal
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Wang, J., Zhao, T., Tan, Z. et al. Deletion of 11q24.2-qter in a male child with cleft lip and palate: an atypical feature of Jacobsen syndrome. J Genet 101, 37 (2022). https://doi.org/10.1007/s12041-022-01380-z
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DOI: https://doi.org/10.1007/s12041-022-01380-z