Rare chromosomal diseases: a clinical case of Lejeune syndrome
- Authors: Kutsenko V.1, Onosovskaya A.1, Kovaleva D.2, Potapova I.3, Volga N.3
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Affiliations:
- 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
- Issue: Vol 36, No 6 (2025)
- Pages: 44-46
- Section: 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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Abstract
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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About the authors
V. Kutsenko
Saint Petersburg State Pediatric Medical University, Ministry of Health of Russia
Author for correspondence.
Email: val9126@mail.ru
ORCID iD: 0000-0001-9755-1906
SPIN-code: 5760-0218
Candidate of Medical Sciences
Russian Federation, 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-code: 2796-5250
Russian Federation, 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-code: 9878-4125
Russian Federation, 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-code: 3685-2664
Candidate of Medical Sciences
Russian Federation, 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-code: 7273-4168
Candidate of Medical Sciences
Russian Federation, Saint PetersburgReferences
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