#3P MOSAIC DELETION DUPLICATION SYNDROME SKIN#

The signs and symptoms related to 3p deletion syndrome result from the loss of genes in the 3p region. In some individuals, the deletion involves material near the end of the chromosome but does not include the tip ( the telomere ). The deletion can include between 4 and 71 known genes. The size of the deletion varies among affected individuals, ranging from approximately 150,000 DNA building blocks (150 kilobases or 150 kb) to 11 million DNA building blocks (11 megabases or 11 Mb). Additionally, individuals with 3p deletion syndrome may have seizures, weak muscle tone (hypotonia), intestinal abnormalities, or congenital heart defects.ģp deletion syndrome is caused by deletion of the end of the small (p) arm of chromosome 3.

#3P MOSAIC DELETION DUPLICATION SYNDROME SKIN#

Other frequent features include skin folds covering the inner corner of the eyes ( epicanthal folds ), extra fingers or toes (polydactyly), and an opening in the roof of the mouth ( cleft palate ). Many affected individuals have slow growth, an abnormally small head ( microcephaly ), a small jaw ( micrognathia ), droopy eyelids ( ptosis ), malformed ears or nose, and widely spaced eyes ( hypertelorism ). The physical signs and symptoms of 3p deletion syndrome vary greatly. Some individuals with 3p deletion syndrome have obsessive-compulsive disorder (OCD) or features of autism spectrum disorders, which are conditions characterized by impaired communication and social interaction. While affected individuals learn to walk in childhood, their language ability usually remains limited. Most have delayed development of language skills as well as motor skills such as crawling and walking. Individuals with 3p deletion syndrome typically have severe to profound intellectual disability. This chromosomal change often leads to intellectual disability, developmental delay, and abnormal physical features. The deletion occurs at the end of the short (p) arm of the chromosome. 3p deletion syndrome is a condition that results from a chromosomal change in which a small piece of chromosome 3 is deleted in each cell.

3p mosaic deletion duplication syndrome