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Article by Dr. Ha Thi Lien - Vinmec High Technology Center
Pallister-Killian syndrome is a complex syndrome defined by severe myasthenia gravis, hypotension in infancy and infancy, mental retardation, facial abnormalities, and upper mottling abnormalities thinning skin, hair, and many other abnormalities at birth.
1. Overview of Pallister-Killian syndrome
Signs and symptoms of mosaic Pallister-Killian syndrome can vary in severity, however most reported cases indicate mental retardation and other serious health problems .
Mosaic Pallister-Killian syndrome occurs due to an extra chromosome 12 or a short arm of chromosome 12, usually the 12p isochromosome. In normal individuals with 2 copies of activity on the short arm of chromosome 12, individuals with Kallister-Killian syndrome will have activity of 4 copies of the short arm of chromosome 12 leading to characteristic abnormalities of the chromosome 12. this syndrome.
Đột biến nhiễm sắc thể số 12 do hội chứng Pallister-Killian
Pallister-Killian mosaic is not inherited from parents. The chromosomal abnormalities that characterize this syndrome often occur randomly during the formation of gametes (eggs, sperm) of the parents. Cells that do not divide do not separate on chromosome 12, leading to an additional 12p isochromosome in the following cells. As a result, children with the syndrome will have 2 cell lines: a normal line with 2 chromosomes 12 and an abnormal line with isochromosome 12p.
The current treatment for Pallister-Killian syndrome is based solely on symptomatic treatment
2. Prevalence of Pallister-Killian syndrome
Pallister-Killian is a rare disease. However, the diagnosis is also difficult in cases of low mosaicism and unspecific symptoms. Approximately 150 Pallister-Killian schools have been reported in the literature.
Pallister-Killian là một hội chứng phức tạp và hiếm gặp
3. Symptoms of Pallister-Killian Syndrome
Symptoms that occur in each person with this syndrome can vary in severity. Some common symptoms are clear as follows: weakness, delayed teething, delayed bone growth, drooping corners of the mouth, protrusion of the lower lip.
Some other features that can be seen in mosaic Pallister-Killian include hearing loss, decreased vision, epilepsy, extra nipples, genital abnormalities and cardiac abnormalities. Due to the abnormalities related to the skeletal system, people with the disease may also have extra fingers, extra toes, big legs that are out (halluces) and often short limbs. About 40 percent of babies with this syndrome are born with a congenital diaphragmatic hernia.
Phần lớn trẻ mắc hội chứng Pallister-Killian khảm bị thoát vị hoành bẩm sinh
4. Diagnosis of Pallister-Killian syndrome
The diagnosis of rare diseases is still challenging today, especially for syndromes due to tissue mosaicism and with varying degrees of clinical presentation. A number of cytogenetic and molecular genetic techniques can be used for diagnosis such as Fluorescence in situ hybridization, microarray technique (CGH or SNP).
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