Deletion of 11q24.2-qter in a male child with cleft lip and palate: an atypical feature of Jacobsen syndrome
Author:
Funder
National Natural Science Foundation of China
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
https://link.springer.com/content/pdf/10.1007/s12041-022-01380-z.pdf
Reference28 articles.
1. Akshoomoff N., Mattson S. N. and Grossfeld P. D. 2015 Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q. Genet. Med. 17, 143–148.
2. Anzick S., Thurm A., Burkett S., Velez D., Cho E., Chlebowski C. et al. 2020 Chromoanasynthesis as a cause of Jacobsen syndrome. Am. J. Med. Genet. Part A 182, 2533–2539.
3. Conrad S., Demurger F., Moradkhani K., Pichon O., Le Caignec C., Pascal C. et al. 2019 11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: role of FLI1, ETS1, and SENCR long noncoding RNA. Am. J. Med. Genet. Part A 179, 993–1000.
4. Fryns J. P., Kleczkowska A., Buttiens M., Marien P. and van den Berghe H. 1986 Distal 11q monosomy. The typical 11q monosomy syndrome is due to deletion of subband 11q24.1. Clin. Genet. 30, 255–260.
5. Grossfeld P. D., Mattina T., Lai Z., Favier R., Jones K. L., Cotter F. and Jones C. 2004 The 11q terminal deletion disorder: a prospective study of 110 cases. Am. J. Med. Genet. A 129A, 51–61.
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