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GTR Home > Conditions/Phenotypes > Chromosome 16p12.1 deletion syndrome, 520kb

Chromosome 16p12.1 deletion syndrome, 520kb

Synonyms
16p12.2 Microdeletion; Chromosome 16p12.1 deletion syndrome; Chromosome 16p12.1 deletion syndrome, 520-kb

Summary

Excerpted from the GeneReview: 16p12.2 Recurrent Deletion
16p12.2 recurrent deletion is characterized by variable clinical findings that do not constitute a recognizable syndrome. Of note, the significant bias in ascertainment of individuals undergoing clinical chromosomal microarray analysis (i.e., children with intellectual disability and developmental delay; individuals with schizophrenia) makes it difficult to accurately associate specific phenotypes with the 16p12.2 recurrent deletion. Findings commonly observed in children (probands) with this deletion include: developmental delay, cognitive impairment (ranging from mild to profound), growth impairment (including short stature), cardiac malformations, epilepsy, and psychiatric and/or behavioral issues. Other findings can include: hearing loss, dental abnormalities, renal and genital anomalies (the latter in males), and cleft palate ± cleft lip.
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:
Santhosh Girirajan
Lucilla Pizzo
John Moeschler
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Available tests

5 tests are in the database for this condition.

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Clinical tests (5 available)

Cytogenetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C16DELp12.1, FRA16E
    Summary: fragile site, distamycin A type, rare, fra(16)(p12.1)

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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