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GTR Home > Conditions/Phenotypes > Chromosome 1q21.1 deletion syndrome

Chromosome 1q21.1 deletion syndrome

Synonyms
1q21.1 Deletion; 1q21.1 recurrent microdeletion; CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB
Modes of inheritance
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)

Summary

Excerpted from the GeneReview: 1q21.1 Recurrent Deletion
The 1q21.1 recurrent deletion itself does not lead to a clinically recognizable syndrome, as some persons with the deletion have no obvious clinical findings. Others have variable findings that most commonly include mildly dysmorphic but nonspecific facial features (>75%), mild intellectual disability or learning disabilities (25%), microcephaly (43%), and eye abnormalities (26%). Other findings can include cardiac defects, genitourinary anomalies, skeletal malformations, joint laxity, and seizures (~23%). Psychiatric and behavioral abnormalities can include autism spectrum disorder, attention-deficit/hyperactivity disorder, and sleep disturbances. Sensorineural hearing loss and recurrent infections /otitis media are rare.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Rose Guo
Chad R Haldeman-Englert
view full author information

Available tests

18 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (18 available)

Cytogenetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ATFB11, CX40, GJA5
    Summary: gap junction protein alpha 5

  • Also known as: CAE, CAE1, CTRCT1, CX50, CZP1, MP70, GJA8
    Summary: gap junction protein alpha 8

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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