10q26 deletion síndrome - Chromosome 10
The 10q26 deletion syndrome, also known as the 10q distal deletion or monosomy, is a process that develops due to the loss of a segment on the long arm of chromosome 10 in each cell.
Signs and symptoms of 10q26 deletion syndrome vary widely among affected individuals and may include: distinctive facial features such as a prominent or pointed nose, wide nasal bridge, micrognathia, malformed lower implant ears, thin upper lip, microcephaly, hypertelorism with strabismus and short and webbed neck; skeletal problems including scoliosis, limited movement in the elbows or other joints and clinodactyly; genital abnormalities in men such as micropene, cryptorchidism and hypospadias; mild to moderate intellectual disability; growth problems and developmental delay; delayed speech development and motor skills; seizures; attention deficit/hyperactivity disorder (ADHD), poor impulse control and autistic behavior. Some affected individuals may have kidney abnormalities, heart defects, respiratory problems, recurrent infections or hearing or vision problems.
This process is due to a deletion that eliminates between 3.5 million and 17 million base pairs of DNA at position q26 on chromosome 10. The signs and symptoms of 10q26 deletion syndrome are probably related to the loss of one or more genes in the deleted region. However, it is not clear which absent genes contribute to the specific characteristics of the process.
This process can be inherited or developed due to a new chromosomal change. When the process is inherited, it occurs with an autosomal dominant pattern, which means that one copy of the altered chromosome in each cell is sufficient to express the process. In some cases, an affected person inherits the chromosome with a segment removed from a parent. Other cases are due to a deletion that occurs during the formation of reproductive cells in the parents or at the beginning of embryonic development. These cases occur in people with no history of the process in their family.
Tests performed in IVAMI: in IVAMI we carried out the study of deletions on chromosome 10 by means of quantitative real-time PCR tests.
Recommended samples: blood taken with EDTA for separation of blood leukocytes, or card impregnated with dried blood sample (IVAMI can mail the card to deposit the blood sample).