GTR Home > Conditions/Phenotypes > Deletion of long arm of chromosome 18


A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts. [from NCI]

Available tests

3 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Associated cytogenetic location

  • Location: 18q

Clinical features


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