MCID: 16P009
MIFTS: 8

16p12.2 Microdeletion

Aliases & Classifications for 16p12.2 Microdeletion

MalaCards integrated aliases for 16p12.2 Microdeletion:

Name: 16p12.2 Microdeletion 26
Chromosome 16p12.1 Deletion Syndrome, 520-Kb 26
16p12.1 Microdeletion 26

Summaries for 16p12.2 Microdeletion

Genetics Home Reference : 26 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.

MalaCards based summary : 16p12.2 Microdeletion, also known as chromosome 16p12.1 deletion syndrome, 520-kb, is related to chromosome 16p12.1 deletion syndrome, 520-kb and 16p12.2 recurrent deletion. Affiliated tissues include heart.

Related Diseases for 16p12.2 Microdeletion

Diseases related to 16p12.2 Microdeletion via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chromosome 16p12.1 deletion syndrome, 520-kb 12.7
2 16p12.2 recurrent deletion 11.7
3 hydrocephalus, congenital, 1 10.2
4 spinal stenosis 10.2
5 heparin-induced thrombocytopenia 10.2

Graphical network of the top 20 diseases related to 16p12.2 Microdeletion:



Diseases related to 16p12.2 Microdeletion

Symptoms & Phenotypes for 16p12.2 Microdeletion

Drugs & Therapeutics for 16p12.2 Microdeletion

Search Clinical Trials , NIH Clinical Center for 16p12.2 Microdeletion

Genetic Tests for 16p12.2 Microdeletion

Anatomical Context for 16p12.2 Microdeletion

MalaCards organs/tissues related to 16p12.2 Microdeletion:

42
Heart

Publications for 16p12.2 Microdeletion

Articles related to 16p12.2 Microdeletion:

# Title Authors Year
1
Cervicomedullary spinal stenosis and ventriculomegaly in a child with developmental delay due to chromosome 16p12.1 microdeletion syndrome. ( 24813870 )
2015
2
The prevalence of 16p12.1 microdeletion in patients with left-sided cardiac lesions. ( 23682798 )
2014
3
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. ( 20154674 )
2010

Variations for 16p12.2 Microdeletion

Expression for 16p12.2 Microdeletion

Search GEO for disease gene expression data for 16p12.2 Microdeletion.

Pathways for 16p12.2 Microdeletion

GO Terms for 16p12.2 Microdeletion

Sources for 16p12.2 Microdeletion

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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