Lejeune's syndrome (short chromosome 5 deletion syndrome): causes, symptoms, diagnosis, treatment
Last reviewed: 23.04.2024
All iLive content is medically reviewed or fact checked to ensure as much factual accuracy as possible.
We have strict sourcing guidelines and only link to reputable media sites, academic research institutions and, whenever possible, medically peer reviewed studies. Note that the numbers in parentheses ([1], [2], etc.) are clickable links to these studies.
If you feel that any of our content is inaccurate, out-of-date, or otherwise questionable, please select it and press Ctrl + Enter.
[What causes Lejeune's syndrome?
A simple deletion of the short arm of chromosome 5 occurs during gametogenesis and is present in all the cells under study, but occasionally mosaicism is detected. Sometimes a deletion occurs when a ring chromosome 5 is formed or de novo arises as a result of an unbalanced translocation. In 10-15% of cases, the 5p-deletion is detected in the child from the parent - the recipient reciprocal translocation carrier.
Symptoms of Lesan syndrome
- Delay of physical and psychomotor development.
- Microcephaly.
- Hypertelorism.
- Mongoloid section of the eye and microgenia.
- Expressed respiratory disturbances from birth.
- Difficulty of feeding during the newborn period.
- Congenital heart defects (15-30%, more often open arterial ducts).
- Inguinal hernia (25-30%).
How to recognize Lesian's syndrome?
The diagnosis of Lesian syndrome is based on clinical signs and characteristic "kitten screaming". The laboratory diagnosis of Lesian syndrome is based on a cytogenetic study that verifies the deletion of the short arm of the chromosome 5.
Treatment of Lesang syndrome
Lesen's syndrome is treated symptomatically. Genetic counseling is shown.
What is the prognosis of Lesian's syndrome?
Lesian's syndrome has a prognosis for life in the absence of severe congenital heart disease. Mental retardation of varying severity.
Использованная литература