MCID: CHR257
MIFTS: 14

Chromosome 6q Deletion

Categories: Rare diseases

Aliases & Classifications for Chromosome 6q Deletion

MalaCards integrated aliases for Chromosome 6q Deletion:

Name: Chromosome 6q Deletion 20
Chromosome 6, Monosomy 6q 71
Partial Monosomy 6q 20
6q Deletion 20
6q Monosomy 20
Deletion 6q 20
Monosomy 6q 20

Classifications:



External Ids:

UMLS 71 C0795816

Summaries for Chromosome 6q Deletion

GARD : 20 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 hydrocephalus and chromosome 6p duplication. An important gene associated with Chromosome 6q Deletion is FOXO3 (Forkhead Box O3).

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 57)
# Related Disease Score Top Affiliating Genes
1 hydrocephalus 10.1
2 chromosome 6p duplication 10.1
3 prader-willi syndrome 10.0
4 microcephaly 10.0
5 monoclonal gammopathy of uncertain significance 10.0
6 leukemia, chronic lymphocytic 10.0
7 cone dystrophy 10.0
8 leukemia 10.0
9 ehlers-danlos syndrome 10.0
10 b-cell lymphoma 10.0
11 macroglobulinemia 10.0
12 indolent b cell lymphoma 10.0
13 solitary median maxillary central incisor 9.9
14 alacrima, achalasia, and mental retardation syndrome 9.9
15 sleep apnea 9.9
16 myelomeningocele 9.9
17 neurogenic bladder 9.9
18 chromosomal triplication 9.9
19 chromosome 12q duplication 9.9
20 chromosome 7q duplication 9.9
21 congenital hydrocephalus 9.9
22 distal trisomy 6p 9.9
23 partial deletion of the long arm of chromosome 6 9.9
24 trisomy 1q 9.9
25 hypertelorism 9.9
26 laryngomalacia 9.9
27 macroglobulinemia, waldenstrom 1 9.9
28 strabismus 9.9
29 cryptorchidism, unilateral or bilateral 9.9
30 retinitis pigmentosa 11 9.9
31 leukemia, acute lymphoblastic 9.9
32 myxoid liposarcoma 9.9
33 chromosome 6q11-q14 deletion syndrome 9.9
34 myelodysplastic syndrome 9.9
35 aspiration pneumonia 9.9
36 lymphoplasmacytic lymphoma 9.9
37 t-cell large granular lymphocyte leukemia 9.9
38 scoliosis 9.9
39 ptosis 9.9
40 porencephaly 9.9
41 waldenstroem's macroglobulinemia 9.9
42 monocular esotropia 9.9
43 myopia 9.9
44 dental caries 9.9
45 liposarcoma 9.9
46 t-cell acute lymphoblastic leukemia 9.9
47 mixed liposarcoma 9.9
48 t-cell lymphoblastic leukemia/lymphoma 9.9
49 mechanical strabismus 9.9
50 congenital nystagmus 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

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. 61
29314186 2018
2
Gene Expression Profile Signature of Aggressive Waldenström Macroglobulinemia with Chromosome 6q Deletion. 61
30402490 2018
3
Chromosome 6q deletion correlates with poor prognosis and low relative expression of FOXO3 in chronic lymphocytic leukemia patients. 61
28699185 2017
4
Congenital hydrocephalus and hemivertebrae associated with de novo partial monosomy 6q (6q25.3→qter). 61
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. 61
23266815 2013
6
Dysmorphic features and congenital heart disease in chromosome 6q deletion: A short report. 61
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. 61
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. 61
19900039 2009
9
Analysis of 6q deletion in Waldenstrom macroglobulinemia. 61
17655703 2007
10
Chromosomal abnormalities, p53 and Bcl-2 expression and clinical outcome in choroidal melanoma. 61
15577317 2004
11
Monosomy 9q and trisomy 16q in a case of congenital solitary infantile myofibromatosis. 61
15365831 2004
12
Severe sensory hearing loss in del(6q)-syndrome. 61
14597381 2003
13
Cryptic 1p36.3/6q25.2 translocation in three generations ascertained through a foetus with IUGR and cerebral malformations. 61
14558026 2003
14
Analysis of chromosome 6q deletion in EBV-associated NK cell leukaemia/lymphoma. 61
11999560 2002
15
Clinical features of Ehlers-Danlos syndrome type VII in chromosome 6q deletion. 61
10721841 2000
16
Allelic loss at chromosome band 6q14 correlates with favorable prognosis in hepatocellular carcinoma. 61
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. 61
9678698 1998
18
Deletion of the long arm of chromosome 6: two new patients and literature review. 61
8946112 1996
19
Cutaneous and joint laxity in chromosome 6q deletion. 61
7971571 1994
20
Chromosome 6q deletion and retinal cone dystrophy. 61
2012125 1991
21
Partial monosomy 6q(q15q21) by de novo interstitial deletion. 61
3359687 1988
22
A child with partial monosomy 6q secondary to a maternal direct insertional event. 61
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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....