MCID: 1QD001
MIFTS: 17

1q Duplications

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for 1q Duplications

MalaCards integrated aliases for 1q Duplications:

Name: 1q Duplications 52
Partial Duplication of the Long Arm of Chromosome 1 52 58
Partial Trisomy of the Long Arm of Chromosome 1 52 58
Partial Duplication of Chromosome 1q 52 58
Partial Trisomy of Chromosome 1q 52 58
Partial Trisomy 1q 52 71

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA262833
UMLS 71 C0795800

Summaries for 1q Duplications

NIH Rare Diseases : 52 Chromosome 1q duplications are chromosome abnormalies that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 1 . The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that may occur in people with chromosome 1q duplications include developmental delay and learning disabilities, slow growth and/or short stature , various birth defects (such as cleft palate or heart defect) and specific facial features (such as a small, receding jaw). Most cases are not inherited from a parent, but a person with the duplication can pass it on to his/her children. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : 1q Duplications, also known as partial duplication of the long arm of chromosome 1, is related to trisomy 1q and lymphocytic leukemia. Affiliated tissues include heart and myeloid.

Related Diseases for 1q Duplications

Diseases related to 1q Duplications via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 trisomy 1q 11.7
2 lymphocytic leukemia 10.2
3 hypertelorism 10.2
4 down syndrome 10.2
5 microphthalmia 10.2
6 chromosome 4q deletion 10.1
7 splenomegaly 10.1
8 obsolete: deletion 4q 10.1
9 leukemia, acute lymphoblastic 10.1
10 chromosomal triplication 10.1
11 leukemia, chronic lymphocytic 10.0
12 acute leukemia 10.0
13 47,xyy 10.0
14 colorectal cancer 10.0
15 coloboma of macula 10.0
16 cri-du-chat syndrome 10.0
17 erythroleukemia, familial 10.0
18 solitary median maxillary central incisor 10.0
19 larsen syndrome 10.0
20 strabismus 10.0
21 chromosome 2q35 duplication syndrome 10.0
22 hydrocephalus, congenital, 1 10.0
23 hydrops fetalis, nonimmune 10.0
24 myelofibrosis 10.0
25 myeloma, multiple 10.0
26 polycythemia vera 10.0
27 leukemia, acute myeloid 10.0
28 larsen-like syndrome 10.0
29 myelodysplastic syndrome 10.0
30 omphalocele 10.0
31 turner syndrome 10.0
32 hypertrichosis 10.0
33 polycythemia 10.0
34 myeloid leukemia 10.0
35 megakaryocytic leukemia 10.0
36 cleft lip 10.0
37 mechanical strabismus 10.0
38 hypoglycemia 10.0
39 chromosome 6p deletion 10.0
40 chromosome 6q deletion 10.0
41 growth hormone deficiency 10.0
42 mosaic trisomy 8 10.0
43 hypotonia 10.0
44 tremor 10.0
45 cleft lip/palate 10.0
46 obsolete: solitary median maxillary central incisor syndrome 10.0
47 partial deletion of the short arm of chromosome 8 10.0
48 cleft soft palate 9.9
49 cryptorchidism, unilateral or bilateral 9.9
50 patent ductus arteriosus 1 9.9

Graphical network of the top 20 diseases related to 1q Duplications:



Diseases related to 1q Duplications

Symptoms & Phenotypes for 1q Duplications

Drugs & Therapeutics for 1q Duplications

Search Clinical Trials , NIH Clinical Center for 1q Duplications

Genetic Tests for 1q Duplications

Anatomical Context for 1q Duplications

MalaCards organs/tissues related to 1q Duplications:

40
Heart, Myeloid

Publications for 1q Duplications

Articles related to 1q Duplications:

(show all 21)
# Title Authors PMID Year
1
Mosaic trisomy 1q: a recurring chromosome anomaly that is a diagnostic challenge and is associated with a Fryns-like phenotype. 61
28437579 2017
2
Partial 1q Duplications and Associated Phenotype. 61
27022331 2016
3
Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: molecular cytogenetic analysis, fetal pathology and review of the literature. 61
24677675 2014
4
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
5
Inverted duplication dup(1)(q32q21) as sole aberration in lymphoid and myeloid malignancies. 61
19100515 2009
6
Distal partial trisomy 1q: report of two cases and a review of the literature. 61
17605151 2007
7
De novo proximal duplication of 1(q12q22) in a female infant with multiple congenital anomalies. 61
17230489 2007
8
Recurrent partial trisomy 1q22-q44 in clonal intraepithelial lymphocytes in refractory celiac sprue. 61
12851869 2003
9
Prenatal diagnosis of a fetus with pure partial trisomy 1q32-44 due to a familial balanced rearrangement. 61
12424755 2002
10
Duplication of 1q in a child with down syndrome and myelodysplastic syndrome. 61
10812176 2000
11
The common features of patients with partial trisomy of the long arm of chromosome 1. 61
9761398 1998
12
Partial trisomy 1q (1q32-->1qter) in adulthood: further delineation of the phenotype. 61
9706337 1998
13
Partial trisomy 1q, an uncommon chromosomal aberration in erythroleukemia. 61
8220123 1993
14
"Jumping translocation" in a 17-month-old child with mixed-lineage leukemia. 61
1756467 1991
15
Partial trisomy 1q in idiopathic myelofibrosis. 61
2280601 1990
16
Cytogenetic and molecular studies in primary myelofibrosis. 61
2713806 1989
17
Trisomy of the long arm of chromosome 1 in patients with hematologic malignancies and solid tumors: report of six cases. 61
3162389 1988
18
Trisomy 1q in polycythemia vera and its relation to disease transition. 61
3706291 1986
19
[Partial trisomy of the long arm of chromosome 1 due to paternal translocation t(1;10) (q32;q26)]. 61
548899 1979
20
Partial trisomy of the long arm of chromosome 1 due to a familial translocation t(1;10) (q32;q26). 61
738733 1978
21
Partial trisomy of the long arm of chromosome 1 in myelofibrosis and polycythemia vera. 61
602927 1977

Variations for 1q Duplications

Expression for 1q Duplications

Search GEO for disease gene expression data for 1q Duplications.

Pathways for 1q Duplications

GO Terms for 1q Duplications

Sources for 1q Duplications

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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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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