Rare chromosomal diseases: a clinical case of Lejeune syndrome
- Авторлар: Kutsenko V.1, Onosovskaya A.1, Kovaleva D.2, Potapova I.3, Volga N.3
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Мекемелер:
- 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
- Шығарылым: Том 36, № 6 (2025)
- Беттер: 44-46
- Бөлім: From Practice
- URL: https://journals.rcsi.science/0236-3054/article/view/310685
- DOI: https://doi.org/10.29296/25877305-2025-06-09
- ID: 310685
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Аннотация
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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##article.viewOnOriginalSite##Авторлар туралы
V. Kutsenko
Saint Petersburg State Pediatric Medical University, Ministry of Health of Russia
Хат алмасуға жауапты Автор.
Email: val9126@mail.ru
ORCID iD: 0000-0001-9755-1906
SPIN-код: 5760-0218
Candidate of Medical Sciences
Ресей, 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-код: 2796-5250
Ресей, 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-код: 9878-4125
Ресей, 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-код: 3685-2664
Candidate of Medical Sciences
Ресей, 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-код: 7273-4168
Candidate of Medical Sciences
Ресей, Saint PetersburgӘдебиет тізімі
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