MCID: CHR249
MIFTS: 14

Chromosome 4q Deletion

Categories: Rare diseases

Aliases & Classifications for Chromosome 4q Deletion

MalaCards integrated aliases for Chromosome 4q Deletion:

Name: Chromosome 4q Deletion 20
4q Partial Monosomy Syndrome 70
Partial Monosomy 4q 20
4q Deletion 20
4q Monosomy 20
Deletion 4q 20
Monosomy 4q 20

Classifications:



External Ids:

UMLS 70 C0265404

Summaries for Chromosome 4q Deletion

GARD : 20 Chromosome 4q deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the long arm (q) of chromosome 4 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Common features shared by many people with this deletion include distinctive craniofacial features, skeletal abnormalities, heart defects, intellectual disability, developmental delay, and short stature. Most cases are not inherited, although affected 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 4q Deletion, also known as 4q partial monosomy syndrome, is related to distal monosomy 4q and cleft palate, isolated. An important gene associated with Chromosome 4q Deletion is CD96 (CD96 Molecule).

Related Diseases for Chromosome 4q Deletion

Diseases related to Chromosome 4q Deletion via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 distal monosomy 4q 11.3
2 cleft palate, isolated 10.1
3 hypertelorism 10.1
4 microcephaly 10.1
5 kidney disease 10.0
6 optic nerve hypoplasia, bilateral 10.0
7 strabismus 10.0
8 c syndrome 10.0
9 pierre robin syndrome 10.0
10 kearns-sayre syndrome 10.0
11 patent ductus arteriosus 1 10.0
12 alacrima, achalasia, and mental retardation syndrome 10.0
13 autism spectrum disorder 10.0
14 chronic progressive external ophthalmoplegia 10.0
15 ventricular septal defect 10.0
16 heart septal defect 10.0
17 atrial heart septal defect 10.0
18 pseudohypoaldosteronism 10.0
19 learning disability 10.0
20 mechanical strabismus 10.0
21 pathologic nystagmus 10.0
22 isolated pierre robin sequence 10.0
23 blepharophimosis 10.0
24 hypospadias 10.0
25 chromosomal triplication 10.0
26 chromosome 10q duplication 10.0
27 chromosome 4q duplication 10.0
28 hypotonia 10.0
29 hypercalciuria, absorptive, 2 9.9
30 pseudohypoaldosteronism, type i, autosomal dominant 9.9
31 axenfeld-rieger syndrome, type 1 9.9
32 charge syndrome 9.9
33 cryptorchidism, unilateral or bilateral 9.9
34 hypercalciuria, absorptive, 1 9.9
35 choanal atresia, posterior 9.9
36 autosomal recessive disease 9.9
37 ptosis 9.9
38 polycystic kidney disease 9.9
39 interstitial nephritis 9.9
40 hypoparathyroidism 9.9
41 axenfeld-rieger syndrome 9.9
42 candidiasis 9.9
43 hemangioma 9.9
44 ovarian cyst 9.9
45 cerebral atrophy 9.9
46 ring chromosome 9.9
47 polyendocrinopathy 9.9

Graphical network of the top 20 diseases related to Chromosome 4q Deletion:



Diseases related to Chromosome 4q Deletion

Symptoms & Phenotypes for Chromosome 4q Deletion

Drugs & Therapeutics for Chromosome 4q Deletion

Search Clinical Trials , NIH Clinical Center for Chromosome 4q Deletion

Genetic Tests for Chromosome 4q Deletion

Anatomical Context for Chromosome 4q Deletion

Publications for Chromosome 4q Deletion

Articles related to Chromosome 4q Deletion:

(show all 17)
# Title Authors PMID Year
1
Genotype-phenotype analysis of 4q deletion syndrome: proposal of a critical region. 61 20
22847869 2012
2
Chromosome 4q deletion syndrome: narrowing the cardiovascular critical region to 4q32.2-q34.3. 61 20
22302627 2012
3
Chromosome 4q deletion syndrome: craniofacial characteristics associated with monosomy of the long arm of chromosome 4q. 20 61
20170389 2010
4
The phenotype of patients with 4q-syndrome. 20
12872814 2003
5
4q12-4q21.21 deletion genotype-phenotype correlation and the absence of piebaldism in presence of KIT haploinsufficiency. 61
25355368 2015
6
Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature. 61
24962056 2014
7
Partial trisomy of the long arm of chromosome 1: prenatal diagnosis, clinical evaluation and cytogenetic findings. Case report and review of the literature. 61
22925348 2013
8
Mandibular distraction in the setting of chromosome 4q deletion. 61
22154942 2012
9
Ophthalmic features in a dysmorphic boy with chromosome 4q deletion and duplication. 61
19373683 2009
10
"Opitz C syndrome and pseudohypoaldosteronism" is caused by a chromosome 4q deletion. 61
19449408 2009
11
Phenotypical manifestations of partial trisomy 9 and monosomy 4 in two siblings. 61
19039519 2008
12
Corpus callosum agenesis in trisomy 8p11.23 and monosomy 4q34 because of maternal translocation. 61
18555175 2008
13
A case of autism with an interstitial deletion on 4q leading to hemizygosity for genes encoding for glutamine and glycine neurotransmitter receptor sub-units (AMPA 2, GLRA3, GLRB) and neuropeptide receptors NPY1R, NPY5R. 61
15090072 2004
14
Familial cryptic translocation with del 4q34-->qter and dup 12pter-->p13 in sibs with tracheal stenosis: clinical, classical and molecular cytogenetic studies and CGH analyses from archival placental tissues evidencing tertiary trisomy 4 in one abortion specimen. 61
11038438 2000
15
Segregation of a paternal insertional translocation results in partial 4q monosomy or 4q trisomy in two siblings. 61
8741910 1996
16
Chromosome 4q deletion syndrome: a case report. 61
6643027 1983
17
Pericentric inversion and partial monosomy 4q associated with congenital anomalies. 61
598833 1977

Variations for Chromosome 4q Deletion

Expression for Chromosome 4q Deletion

Search GEO for disease gene expression data for Chromosome 4q Deletion.

Pathways for Chromosome 4q Deletion

GO Terms for Chromosome 4q Deletion

Sources for Chromosome 4q 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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....