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


Excerpted from the GeneReview: 16p12.2 Microdeletion
16p12.2 microdeletion 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 to the 16p12.2 microdeletion. Findings commonly observed in children (probands) with this deletion include: developmental delay, cognitive impairment (ranges from mild to profound), growth impairment (including short stature), cardiac malformations, epilepsy, and psychiatric and/or behavioral problems. Other findings can include: hearing loss, dental abnormalities, renal and genital anomalies (the latter in males), and cleft palate ± cleft lip.

Associated genes

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

Clinical features


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