MCID: CHR210
MIFTS: 12

Chromosome 17q Duplication

Categories: Rare diseases

Aliases & Classifications for Chromosome 17q Duplication

MalaCards integrated aliases for Chromosome 17q Duplication:

Name: Chromosome 17q Duplication 52
Chromosome 17, Trisomy 17q22 71
Partial Trisomy 17q 52
17q Duplication 52
Duplication 17q 52
17q Trisomy 52
Trisomy 17q 52

Classifications:



External Ids:

UMLS 71 C2931247

Summaries for Chromosome 17q Duplication

MalaCards based summary : Chromosome 17q Duplication, also known as chromosome 17, trisomy 17q22, is related to distal trisomy 17q and cri-du-chat syndrome. An important gene associated with Chromosome 17q Duplication is SLC4A1 (Solute Carrier Family 4 Member 1 (Diego Blood Group)). Affiliated tissues include bone.

Related Diseases for Chromosome 17q Duplication

Diseases related to Chromosome 17q Duplication via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 distal trisomy 17q 11.4
2 cri-du-chat syndrome 10.1
3 chromosome 2q35 duplication syndrome 10.1
4 alacrima, achalasia, and mental retardation syndrome 10.1
5 craniosynostosis 10.1
6 microcephaly 10.1
7 chromosome 20q deletion 10.1
8 syndromic craniosynostosis 10.1
9 cleft palate, isolated 10.0
10 dwarfism 10.0
11 hypotonia 10.0
12 hypertelorism 10.0
13 ellis-van creveld syndrome 10.0
14 hypogonadotropic hypogonadism 10.0
15 47,xyy 10.0
16 47, xxy 10.0
17 chromosomal triplication 10.0

Graphical network of the top 20 diseases related to Chromosome 17q Duplication:



Diseases related to Chromosome 17q Duplication

Symptoms & Phenotypes for Chromosome 17q Duplication

Drugs & Therapeutics for Chromosome 17q Duplication

Search Clinical Trials , NIH Clinical Center for Chromosome 17q Duplication

Genetic Tests for Chromosome 17q Duplication

Anatomical Context for Chromosome 17q Duplication

MalaCards organs/tissues related to Chromosome 17q Duplication:

40
Bone

Publications for Chromosome 17q Duplication

Articles related to Chromosome 17q Duplication:

(show all 12)
# Title Authors PMID Year
1
Partial trisomy 17q and partial monosomy 20q in a boy with craniosynostosis. 61
25424318 2015
2
Genomic profiling of papillary renal cell tumours identifies small regions of DNA alterations: a possible role of HNF1B in tumour development. 61
21438902 2011
3
Pure de novo 17q25.3 micro duplication characterized by micro array CGH in a dysmorphic infant with growth retardation, developmental delay and distal arthrogryposis. 61
20420026 2010
4
Correlation between ultrasound and pathological examination in a prenatal diagnosis of Cri du Chat syndrome associated with partial trisomy 17q. 61
18444226 2008
5
Molecular cytogenetic characterization of a de novo unbalanced translocation leading to trisomy 17q25-->qter and monosomy 18p11.3-->pter in a girl with dysmorphic features. 61
12514362 2003
6
Pure trisomy 17q from a 17;21 translocation. 61
8267933 1993
7
Partial trisomy 17q and monosomy 9p due to a familial translocation. 61
1710432 1990
8
Distal trisomy of chromosome 17q due to inverted tandem duplication. 61
3359688 1988
9
Partial trisomy 17q and a generalised bone dysplasia in a 12 week fetus. 61
3656375 1987
10
De novo distal trisomy 17q. 61
3874592 1985
11
Partial trisomy 17q. Karyotype: 46,XY,der(21),t(17;21)(q22;p13). 61
478542 1979
12
Distal trisomy 17q. 61
477015 1979

Variations for Chromosome 17q Duplication

Expression for Chromosome 17q Duplication

Search GEO for disease gene expression data for Chromosome 17q Duplication.

Pathways for Chromosome 17q Duplication

GO Terms for Chromosome 17q Duplication

Sources for Chromosome 17q Duplication

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
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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