1p36 deletion syndrome
1p36 Deletion Syndrome
1p36 Deletion Syndrome (pronounced one p thirty-six deletion syndrome) is a chromosome disorder that typically results in severe intellectual disability. Most people with 1p36 deletion syndrome have weak muscle tone (hypotonia) in infancy and delays in attaining developmental milestones (developmental delay).
Etymology
The name "1p36 Deletion Syndrome" is derived from the specific location of the genetic mutation that causes the disorder. The "1p36" refers to the location on the short (p) arm of chromosome 1 at position 36 where a segment of the chromosome is typically deleted.
Symptoms
People with 1p36 deletion syndrome have a distinctive facial appearance that typically includes deep-set eyes, a pointed chin, large ears, a thin upper lip, and a straight line that extends from the nose to the upper lip (philtrum). Other common features include a small head size (microcephaly), long hands, and short stature. Many affected individuals have a heart defect, such as a hole in the heart (congenital heart defect).
Causes
1p36 deletion syndrome is caused by a deletion of genetic material from a specific region of chromosome 1. The deletion occurs near the end of the chromosome at a location designated as 1p36.
Diagnosis
Diagnosis of 1p36 deletion syndrome is based on clinical features and confirmed by genetic testing that can identify the characteristic deletion in chromosome 1.
Treatment
Treatment of 1p36 deletion syndrome is symptomatic and supportive, focusing on the specific symptoms in each individual. This may include physical therapy, special education, speech therapy, and other medical, social, and/or vocational services.
Prognosis
The prognosis for individuals with 1p36 deletion syndrome varies depending on the severity of symptoms. Some individuals may have a normal lifespan with appropriate management of health problems, while others may have life-threatening complications.
External links
- Medical encyclopedia article on 1p36 deletion syndrome
- Wikipedia's article - 1p36 deletion syndrome
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