MCID: CHR703
MIFTS: 8

Chromosome 17q11.2 Duplication Syndrome, 1.4-Mb

Aliases & Classifications for Chromosome 17q11.2 Duplication Syndrome, 1.4-Mb

MalaCards integrated aliases for Chromosome 17q11.2 Duplication Syndrome, 1.4-Mb:

Name: Chromosome 17q11.2 Duplication Syndrome, 1.4-Mb 56
Nf1 Microduplication Syndrome 56 29

External Ids:

OMIM 56 618874

Summaries for Chromosome 17q11.2 Duplication Syndrome, 1.4-Mb

OMIM : 56 The NF1 microduplication syndrome is characterized by mild to moderate impairment of intellectual development and mild facial dysmorphisms, with variable other features including early-onset baldness, tooth enamel hypoplasia, seizures, and macro- or microcephaly. Neurofibromas have not been reported (summary by Moles et al., 2012). (618874)

MalaCards based summary : Chromosome 17q11.2 Duplication Syndrome, 1.4-Mb, is also known as nf1 microduplication syndrome. An important gene associated with Chromosome 17q11.2 Duplication Syndrome, 1.4-Mb is DUP17Q11.2 (Chromosome 17q11.2 Duplication Syndrome, 1.4-Mb).

Related Diseases for Chromosome 17q11.2 Duplication Syndrome, 1.4-Mb

Symptoms & Phenotypes for Chromosome 17q11.2 Duplication Syndrome, 1.4-Mb

Clinical features from OMIM:

618874

Drugs & Therapeutics for Chromosome 17q11.2 Duplication Syndrome, 1.4-Mb

Search Clinical Trials , NIH Clinical Center for Chromosome 17q11.2 Duplication Syndrome, 1.4-Mb

Genetic Tests for Chromosome 17q11.2 Duplication Syndrome, 1.4-Mb

Genetic tests related to Chromosome 17q11.2 Duplication Syndrome, 1.4-Mb:

# Genetic test Affiliating Genes
1 Nf1 Microduplication Syndrome 29

Anatomical Context for Chromosome 17q11.2 Duplication Syndrome, 1.4-Mb

Publications for Chromosome 17q11.2 Duplication Syndrome, 1.4-Mb

Articles related to Chromosome 17q11.2 Duplication Syndrome, 1.4-Mb:

# Title Authors PMID Year
1
NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype. 56
22241097 2012
2
NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia? 56
18183042 2008
3
Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. 56
17389918 2007
4
Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome. 61
27629806 2017

Variations for Chromosome 17q11.2 Duplication Syndrome, 1.4-Mb

Expression for Chromosome 17q11.2 Duplication Syndrome, 1.4-Mb

Search GEO for disease gene expression data for Chromosome 17q11.2 Duplication Syndrome, 1.4-Mb.

Pathways for Chromosome 17q11.2 Duplication Syndrome, 1.4-Mb

GO Terms for Chromosome 17q11.2 Duplication Syndrome, 1.4-Mb

Sources for Chromosome 17q11.2 Duplication Syndrome, 1.4-Mb

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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32 ICD10
33 ICD10 via Orphanet
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53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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