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Chromosome 16p12.1 deletion syndrome, 520kb

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: 16p12.2 Microdeletion; Chromosome 16p12.1 deletion syndrome, 520-kb
Gene (location): FRA16E
Monarch Initiative: MONDO:0007631
OMIM®: 136570

Disease characteristics

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. [from GeneReviews]
Santhosh Girirajan  |  Lucilla Pizzo  |  John Moeschler, et. al.   view full author information

Additional descriptions

There are several phenotypes associated with variation in pericentric region of chromosome 16: see the 16p12.2-p11.2 deletion syndrome (613604); see 611913 for a deletion or duplication at 16p11.2 associated with autism (AUTS14); and see 613444 for a 220-kb deletion at 16p11.2 associated with isolated severe early-onset obesity and obesity with developmental delay.  http://www.omim.org/entry/136570
From MedlinePlus Genetics
16p12.2 microdeletion is a chromosomal change in which a small amount of genetic material on chromosome 16 is deleted. The deletion occurs on the short (p) arm of the chromosome at a location designated p12.2. Common characteristics that have been described in people with a 16p12.2 microdeletion include developmental delay, delayed speech, intellectual disability that ranges from mild to profound, weak muscle tone (hypotonia), slow growth resulting in short stature, an usually small head (microcephaly), malformations of the heart, recurrent seizures (epilepsy), and psychiatric and behavioral problems.

Less common features that can occur in people with a 16p12.2 microdeletion can include hearing loss, an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), dental abnormalities, malformed kidneys, and genital abnormalities in males. However, there is no particular pattern of physical abnormalities that characterizes individuals with a 16p12.2 microdeletion. Signs and symptoms related to the chromosomal change vary even among affected members of the same family, and some people with the deletion have no identified physical or behavioral abnormalities.  https://medlineplus.gov/genetics/condition/16p122-microdeletion

Clinical features

From HPO
Abnormality of cardiovascular system morphology
MedGen UID:
Concept ID:
Congenital Abnormality
Any structural anomaly of the heart and great vessels.
MedGen UID:
Concept ID:
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Atypical behavior
MedGen UID:
Concept ID:
Mental or Behavioral Dysfunction
An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.
Delayed speech and language development
MedGen UID:
Concept ID:
A degree of language development that is significantly below the norm for a child of a specified age.
Global developmental delay
MedGen UID:
Concept ID:
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Generalized hypotonia
MedGen UID:
Concept ID:
Generalized muscular hypotonia (abnormally low muscle tone).
Abnormal facial shape
MedGen UID:
Concept ID:
An abnormal morphology (form) of the face or its components.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChromosome 16p12.1 deletion syndrome, 520kb

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