Poor muscle tone (hypotonia) is common in individuals with dup15q syndrome and contributes to delayed development and impairment of motor skills, including sitting and walking. ad Autosomal dominant 10 10qter deletion Chromosome 10q26 deletion syndrome Distal 10q deletion syndrome Distal deletion 10q Distal monosomy 10q Monosomy 10qter Telomeric deletion 10 Terminal chromosome 10q26 deletion syndrome GTR C2674937 MeSH D002872 OMIM 609625 SNOMED CT 16129004 SNOMED CT 718687003 2019-09 15q11-q13 duplication syndrome description 15q11-q13 duplication syndrome (dup15q syndrome) is a developmental disorder its signs and symptoms vary among affected individuals.
Some people with 10q26 deletion syndrome have kidney abnormalities, heart defects, breathing problems, recurrent infections, or hearing or vision problems. Males with this condition may have genital abnormalities, such as a small penis (micropenis), undescended testes (cryptorchidism), or the urethra opening on the underside of the penis (hypospadias). Slow growth before and after birth can also occur in affected individuals. Skeletal problems include a spine that curves to the side (scoliosis), limited movement in the elbows or other joints, or curved fifth fingers and toes (clinodactyly). Less common signs and symptoms can occur in 10q26 deletion syndrome. Some people with this condition have a short neck with extra folds of skin (webbed neck). Many affected individuals have widely spaced eyes (hypertelorism) that do not look in the same direction (strabismus). Facial features of people with 10q26 deletion syndrome may include a prominent or beaked nose, a broad nasal bridge, a small jaw (micrognathia), malformed ears that are low set, a thin upper lip, and an unusually small head size (microcephaly). A range of facial features is seen in people with 10q26 deletion syndrome, but not all affected individuals have these features. Affected individuals may experience seizures, attention-deficit/hyperactivity disorder (ADHD), poor impulse control (impulsivity), or exhibit autistic behaviors that affect communication and social interaction. Some have limited speech throughout life. People with 10q26 deletion syndrome often have delayed development of speech and of motor skills such as sitting, crawling, and walking. Among the more common features associated with this chromosomal change are distinctive facial features, mild to moderate intellectual disability, growth problems, and developmental delay. The signs and symptoms of 10q26 deletion syndrome vary widely, even among affected members of the same family.
The deletion occurs on the long (q) arm of the chromosome at a position designated 10q26.
10q26 deletion syndrome is a condition that results from the loss (deletion) of a small piece of chromosome 10 in each cell.
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