Does deletion cause genetic abnormalities?
Chromosomal deletion syndromes result from loss of parts of chromosomes. They may cause severe congenital anomalies and significant intellectual and physical disability.
What are the symptoms of deletion mutation?
The physical signs and symptoms of 3p deletion syndrome vary greatly. 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 ).
What are the phenotypes of the 5p deletions?
The reported phenotypes included high-pitched, monotone, catlike crying during the first years of life, providing the name of the syndrome, in addition to typical facial dysmorphisms, intellectual impairment, and developmental delay. The 5p deletions causative of this syndrome have an incidence of 1 in 50,000 live births [ 2
Where to find information on 5q14.3 microdeletion syndrome?
Genetics Home Reference (GHR) contains information on 5q14.3 microdeletion syndrome . This website is maintained by the National Library of Medicine. Unique is a source of information and support for families and individuals affected by rare chromosome disorders. Click on the link to view information about 5q14.3 microdeletion syndrome .
What happens to a person with 16p11.2 deletion syndrome?
People with 16p11.2 deletion syndrome usually have developmental delay and intellectual disability. Most also have at least some features of autism spectrum disorders. These disorders are characterized by impaired communication and socialization skills, as well as delayed development of speech and language.
Is there a duplication of chromosome 5p15.3?
Two boys have been reported with no intellectual disability that have duplication from 5p15.1 to 5p15.3 near the terminus (which is toward the terminus but beyond the area for reported intellectual disability). [3] This table lists symptoms that people with this disease may have.
