MCID: CHR257
MIFTS: 17

Chromosome 6q Deletion

Categories: Rare diseases

Aliases & Classifications for Chromosome 6q Deletion

MalaCards integrated aliases for Chromosome 6q Deletion:

Name: Chromosome 6q Deletion 53
Chromosome 6, Monosomy 6q 72
Partial Monosomy 6q 53
6q Deletion 53
6q Monosomy 53
Deletion 6q 53
Monosomy 6q 53

Classifications:



External Ids:

UMLS 72 C0795816

Summaries for Chromosome 6q Deletion

NIH Rare Diseases : 53 Chromosome 6q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 6q deletion include developmental delay, intellectual disability, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Chromosome 6q Deletion, also known as chromosome 6, monosomy 6q, is related to lymphoma and microcephaly. An important gene associated with Chromosome 6q Deletion is FOXO3 (Forkhead Box O3). Affiliated tissues include nk cells, heart and t cells.

Related Diseases for Chromosome 6q Deletion

Diseases related to Chromosome 6q Deletion via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 lymphoma 10.2
2 microcephaly 10.2
3 leukemia 10.1
4 solitary median maxillary central incisor 10.0
5 aortic coarctation 10.0
6 chromosomal triplication 10.0
7 chromosome 12q duplication 10.0
8 chromosome 7q duplication 10.0
9 obsolete: solitary median maxillary central incisor syndrome 10.0
10 partial deletion of the long arm of chromosome 6 10.0
11 trisomy 1q 10.0
12 breast cancer 10.0
13 macroglobulinemia, waldenstrom 1 10.0
14 prader-willi syndrome 10.0
15 leukemia, acute lymphoblastic 10.0
16 lymphoplasmacytic lymphoma 10.0
17 hydrocephalus 10.0
18 congenital hydrocephalus 10.0
19 hypotonia 10.0
20 leukemia, chronic lymphocytic 9.9
21 anus, imperforate 9.9
22 cone dystrophy 9.9
23 lymphocytic leukemia 9.9
24 heart disease 9.9
25 ehlers-danlos syndrome 9.9
26 b-cell lymphoma 9.9
27 macroglobulinemia 9.9
28 indolent b cell lymphoma 9.9
29 leukemia, b-cell, chronic 9.9
30 gastroesophageal reflux 9.9
31 burkitt lymphoma 9.9
32 cleft palate, isolated 9.9
33 hypertelorism 9.9
34 laryngomalacia 9.9
35 prostate cancer 9.9
36 retinal cone dystrophy 1 9.9
37 strabismus 9.9
38 bronchomalacia 9.9
39 cryptorchidism, unilateral or bilateral 9.9
40 hydrocephalus, congenital, 1 9.9
41 ataxia and polyneuropathy, adult-onset 9.9
42 retinitis pigmentosa 11 9.9
43 rippling muscle disease 1 9.9
44 myxoid liposarcoma 9.9
45 chromosome 6q11-q14 deletion syndrome 9.9
46 myelodysplastic syndrome 9.9
47 aspiration pneumonia 9.9
48 anaplastic large cell lymphoma 9.9
49 diffuse large b-cell lymphoma 9.9
50 mantle cell lymphoma 9.9

Graphical network of the top 20 diseases related to Chromosome 6q Deletion:



Diseases related to Chromosome 6q Deletion

Symptoms & Phenotypes for Chromosome 6q Deletion

Drugs & Therapeutics for Chromosome 6q Deletion

Search Clinical Trials , NIH Clinical Center for Chromosome 6q Deletion

Genetic Tests for Chromosome 6q Deletion

Anatomical Context for Chromosome 6q Deletion

MalaCards organs/tissues related to Chromosome 6q Deletion:

41
Nk Cells, Heart, T Cells

Publications for Chromosome 6q Deletion

Articles related to Chromosome 6q Deletion:

(show all 22)
# Title Authors PMID Year
1
Aggressive natural killer (NK)-cell leukaemia and extranodal NK/T-cell lymphoma are two distinct diseases that differ in their clinical presentation and cytogenetic findings. 38
29314186 2018
2
Gene Expression Profile Signature of Aggressive Waldenström Macroglobulinemia with Chromosome 6q Deletion. 38
30402490 2018
3
Chromosome 6q deletion correlates with poor prognosis and low relative expression of FOXO3 in chronic lymphocytic leukemia patients. 38
28699185 2017
4
Congenital hydrocephalus and hemivertebrae associated with de novo partial monosomy 6q (6q25.3→qter). 38
26929909 2015
5
Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 12q (12q24.21→qter) and partial monosomy 6q (6q27→qter) associated with coarctation of the aorta, ventriculomegaly and thickened nuchal fold. 38
23266815 2013
6
Dysmorphic features and congenital heart disease in chromosome 6q deletion: A short report. 38
22754239 2012
7
Partial trisomy 1q (1q42.13-->qter) and partial monosomy 6q (6q27-->qter) in a girl with single median maxillary central incisor, corpus callosum dysgenesis and developmental delay. 38
23431743 2012
8
Prenatal findings and delineation of de novo concurrent partial trisomy 7q(7q31.2 --> qter) and partial monosomy 6q(6q26 --> qter) by high-resolution array CGH. 38
19900039 2009
9
Analysis of 6q deletion in Waldenstrom macroglobulinemia. 38
17655703 2007
10
Chromosomal abnormalities, p53 and Bcl-2 expression and clinical outcome in choroidal melanoma. 38
15577317 2004
11
Monosomy 9q and trisomy 16q in a case of congenital solitary infantile myofibromatosis. 38
15365831 2004
12
Severe sensory hearing loss in del(6q)-syndrome. 38
14597381 2003
13
Cryptic 1p36.3/6q25.2 translocation in three generations ascertained through a foetus with IUGR and cerebral malformations. 38
14558026 2003
14
Analysis of chromosome 6q deletion in EBV-associated NK cell leukaemia/lymphoma. 38
11999560 2002
15
Clinical features of Ehlers-Danlos syndrome type VII in chromosome 6q deletion. 38
10721841 2000
16
Allelic loss at chromosome band 6q14 correlates with favorable prognosis in hepatocellular carcinoma. 38
10616527 2000
17
Analysis of a familial three way translocation involving chromosomes 3q, 6q, and 15q by high resolution banding and fluorescent in situ hybridisation (FISH) shows two different unbalanced karyotypes in sibs. 38
9678698 1998
18
Deletion of the long arm of chromosome 6: two new patients and literature review. 38
8946112 1996
19
Cutaneous and joint laxity in chromosome 6q deletion. 38
7971571 1994
20
Chromosome 6q deletion and retinal cone dystrophy. 38
2012125 1991
21
Partial monosomy 6q(q15q21) by de novo interstitial deletion. 38
3359687 1988
22
A child with partial monosomy 6q secondary to a maternal direct insertional event. 38
3585939 1987

Variations for Chromosome 6q Deletion

Expression for Chromosome 6q Deletion

Search GEO for disease gene expression data for Chromosome 6q Deletion.

Pathways for Chromosome 6q Deletion

GO Terms for Chromosome 6q Deletion

Sources for Chromosome 6q Deletion

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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