U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Chromosome 1q41-q42 deletion syndrome

Chromosome 1q41-q42 deletion syndrome

Synonyms
Chromosome 1, monosomy 1q4; Deletion 1q4; Monosomy 1q4
Modes of inheritance
Unknown inheritance (Orphanet)
Not genetically inherited (Orphanet)

Summary

1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease. [from ORDO]

Available tests

11 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (11 available)

Molecular Genetics Tests

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.