Rare chromosomal diseases: a clinical case of Lejeune syndrome
- Autores: Kutsenko V.1, Onosovskaya A.1, Kovaleva D.2, Potapova I.3, Volga N.3
-
Afiliações:
- Saint Petersburg State Pediatric Medical University, Ministry of Health of Russia
- V.A. Almazov National Medical Research Center, Ministry of Health of Russia
- S.M. Kirov Military Medical Academy, Ministry of Defense of Russia
- Edição: Volume 36, Nº 6 (2025)
- Páginas: 44-46
- Seção: From Practice
- URL: https://journals.rcsi.science/0236-3054/article/view/310685
- DOI: https://doi.org/10.29296/25877305-2025-06-09
- ID: 310685
Citar
Acesso aberto
Acesso está concedido
Somente assinantes
Resumo
Cri du chat syndrome (ICD-10: Q93.4, Lejeune syndrome) is a hereditary disease caused by the loss of part of the fifth chromosome. Despite the fact that Lejeune syndrome is not considered the most dangerous genetic disease, the general prognosis is unfavorable. Only 10% of children survive to the age of 10, 5% – to 18 years.
Taking into account that this pathology is extremely rare in the practice of a pediatrician, and there are isolated publications in the domestic literature, the authors present a clinical case with identified chromosomal pathology.
Palavras-chave
Texto integral
##article.viewOnOriginalSite##Sobre autores
V. Kutsenko
Saint Petersburg State Pediatric Medical University, Ministry of Health of Russia
Autor responsável pela correspondência
Email: val9126@mail.ru
ORCID ID: 0000-0001-9755-1906
Código SPIN: 5760-0218
Candidate of Medical Sciences
Rússia, Saint PetersburgA. Onosovskaya
Saint Petersburg State Pediatric Medical University, Ministry of Health of Russia
Email: val9126@mail.ru
ORCID ID: 0009-0005-5507-4482
Código SPIN: 2796-5250
Rússia, Saint Petersburg
D. Kovaleva
V.A. Almazov National Medical Research Center, Ministry of Health of Russia
Email: val9126@mail.ru
ORCID ID: 0000-0002-6236-4526
Código SPIN: 9878-4125
Rússia, Saint Petersburg
I. Potapova
S.M. Kirov Military Medical Academy, Ministry of Defense of Russia
Email: val9126@mail.ru
ORCID ID: 0009-0004-6129-1996
Código SPIN: 3685-2664
Candidate of Medical Sciences
Rússia, Saint PetersburgN. Volga
S.M. Kirov Military Medical Academy, Ministry of Defense of Russia
Email: val9126@mail.ru
ORCID ID: 0009-0005-1945-6539
Código SPIN: 7273-4168
Candidate of Medical Sciences
Rússia, Saint PetersburgBibliografia
- Lejeune J., Lafourcade J., Berger R. et al. 3 cases of partial deletion of the short arm of a 5 chromosome. C R Hebd Seances Acad Sci. 1963; 257: 3098–102.
- Nguyen J.M., Qualmann K.J., Okashah R. et al. 5p deletions: current knowledge and future directions. Am J Med Genet C Semin Med Genet. 2015; 169 (3): 224–38. doi: 10.1002/ajmg.c.31444
- Overhauser J., Huang X., Gersh M. et al. Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome. Hum Mol Genet. 1994; 3 (2): 247–52. doi: 10.1093/hmg/3.2.247
- Zhang X., Snijders A., Segraves R. et al. High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization. Am J Hum Genet. 2005; 76 (2): 312–26. doi: 10.1086/427762
- Zhang A., Zheng C., Hou M. et al. Deletion of the telomerase reverse transcriptase gene and haploinsufficiency of telomere maintenance in cri du chat syndrome. Am J Hum Genet. 2003; 72 (4): 940–8. doi: 10.1086/374565
- Medina M., Marinescu R.C., Overhauser J. et al. Hemizygosity of delta-catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome. Genomics. 2000; 63 (2): 157–64. doi: 10.1006/geno.1999.6090
- Cerruti Mainardi P., Perfumo C., Cali A. et al. Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation. J Med Genet. 2001; 38 (3): 151–8. doi: 10.1136/jmg.38.3.151
- Kjaer I., Niebuhr E. Studies of the cranial base in 23 patients with cri-du-chat syndrome suggest a cranial developmental field involved in the condition. Am J Med Genet. 1999; 82 (1): 6–14. doi: 10.1002/(sici)1096-8628(19990101)82:1<6::aid-ajmg2>3.0.co;2-#
- Марченко Н.П., Шевченко Е.А. Синдром Лежена / «кошачьего крика»: пренатальные ультразвуковые находки. Пренатальная диагностика. 2017; 16 (3): 265–70 [Marchenko N.P., Shevchenko E.A. Lejeune / "cat’s cry"syndrome: prenatal ultrasound findings. Prenatal diagnosis. 2017; 16 (3): 265–70 (in Russ.)].
Arquivos suplementares
