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GTR Home > Conditions/Phenotypes > Chromosome 1p36 deletion syndrome

Chromosome 1p36 deletion syndrome

Synonyms
1p36 Deletion Syndrome; 1p36 microdeletion syndrome ; 1p36.33 deletion; Monosomy 1p36 syndrome
Modes of inheritance
Non-Mendelian inheritance (Orphanet)
Not genetically inherited (Orphanet)

Summary

The constitutional deletion of chromosome 1p36 results in a syndrome with multiple congenital anomalies and mental retardation (Shapira et al., 1997). Monosomy 1p36 is the most common terminal deletion syndrome in humans, occurring in 1 in 5,000 births (Shaffer and Lupski, 2000; Heilstedt et al., 2003). See also neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH; 616975), which shows overlapping features and is caused by heterozygous mutation in the RERE gene (605226) on proximal chromosome 1p36. See also Radio-Tartaglia syndrome (RATARS; 619312), caused by mutation in the SPEN gene (613484) on chromosome 1p36, which shows overlapping features. [from OMIM]

Available tests

45 tests are in the database for this condition.

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Clinical tests (45 available)

Cytogenetics Tests

Molecular Genetics Tests

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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