Rare chromosomal diseases: a clinical case of Lejeune syndrome
- 作者: Kutsenko V.1, Onosovskaya A.1, Kovaleva D.2, Potapova I.3, Volga N.3
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隶属关系:
- 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
- 期: 卷 36, 编号 6 (2025)
- 页面: 44-46
- 栏目: From Practice
- URL: https://journals.eco-vector.com/0236-3054/article/view/686584
- DOI: https://doi.org/10.29296/25877305-2025-06-09
- ID: 686584
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详细
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.
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作者简介
V. Kutsenko
Saint Petersburg State Pediatric Medical University, Ministry of Health of Russia
编辑信件的主要联系方式.
Email: val9126@mail.ru
ORCID iD: 0000-0001-9755-1906
SPIN 代码: 5760-0218
Candidate of Medical Sciences
俄罗斯联邦, Saint PetersburgA. Onosovskaya
Saint Petersburg State Pediatric Medical University, Ministry of Health of Russia
Email: val9126@mail.ru
ORCID iD: 0009-0005-5507-4482
SPIN 代码: 2796-5250
俄罗斯联邦, 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
SPIN 代码: 9878-4125
俄罗斯联邦, 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
SPIN 代码: 3685-2664
Candidate of Medical Sciences
俄罗斯联邦, Saint PetersburgN. Volga
S.M. Kirov Military Medical Academy, Ministry of Defense of Russia
Email: val9126@mail.ru
ORCID iD: 0009-0005-1945-6539
SPIN 代码: 7273-4168
Candidate of Medical Sciences
俄罗斯联邦, Saint Petersburg参考
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