MCID: TRS029
MIFTS: 27

Trisomy 1q

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Trisomy 1q

Summaries for Trisomy 1q

MalaCards based summary : Trisomy 1q, also known as duplication 1q, is related to 1q duplications and chromosomal triplication. An important gene associated with Trisomy 1q is LRSL (Larsen-Like Syndrome). Affiliated tissues include myeloid, bone marrow and heart, and related phenotypes are depressed nasal bridge and low-set ears

Related Diseases for Trisomy 1q

Diseases in the Trisomy 1q family:

Trisomy 18-Like Syndrome Trisomy 22
Autosomal Trisomy Total Autosomal Trisomy

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

(show top 50) (show all 79)
# Related Disease Score Top Affiliating Genes
1 1q duplications 11.3
2 chromosomal triplication 10.8
3 myelodysplastic syndrome 10.4
4 microphthalmia 10.2
5 chromosome 2q35 duplication syndrome 10.1
6 myelofibrosis 10.1
7 leukemia, acute myeloid 10.1
8 hypertelorism 10.1
9 down syndrome 10.1
10 myeloma, multiple 10.1
11 polycythemia vera 10.1
12 hydrocephalus 10.1
13 acute leukemia 10.1
14 teratoma 10.1
15 polycythemia 10.1
16 myeloid leukemia 10.1
17 cleft lip 10.1
18 cleft lip/palate 10.1
19 cleft palate, isolated 9.9
20 coloboma of macula 9.9
21 cri-du-chat syndrome 9.9
22 solitary median maxillary central incisor 9.9
23 larsen syndrome 9.9
24 strabismus 9.9
25 renal hypodysplasia/aplasia 1 9.9
26 anus, imperforate 9.9
27 cryptorchidism, unilateral or bilateral 9.9
28 fryns syndrome 9.9
29 hydrops fetalis, nonimmune 9.9
30 malignant atrophic papulosis 9.9
31 leukemia, chronic myeloid 9.9
32 larsen-like syndrome 9.9
33 aplastic anemia 9.9
34 leukemia, acute lymphoblastic 9.9
35 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.9
36 alacrima, achalasia, and mental retardation syndrome 9.9
37 lymphatic malformation 7 9.9
38 deficiency anemia 9.9
39 scoliosis 9.9
40 dowling-degos disease 9.9
41 omphalocele 9.9
42 cerebellar hypoplasia 9.9
43 acute erythroid leukemia 9.9
44 microcephaly 9.9
45 patau syndrome 9.9
46 pancytopenia 9.9
47 thrombocytopenia 9.9
48 heart septal defect 9.9
49 atrial heart septal defect 9.9
50 essential thrombocythemia 9.9

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



Diseases related to Trisomy 1q

Symptoms & Phenotypes for Trisomy 1q

Human phenotypes related to Trisomy 1q:

58 31 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
2 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
3 wide nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000445
4 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
5 cystic hygroma 58 31 frequent (33%) Frequent (79-30%) HP:0000476
6 arachnodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001166
7 narrow mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000160
8 anophthalmia 58 31 frequent (33%) Frequent (79-30%) HP:0000528
9 polyhydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001561
10 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
11 increased nuchal translucency 58 31 frequent (33%) Frequent (79-30%) HP:0010880
12 microretrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000308
13 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
14 multicystic kidney dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000003
15 long foot 58 31 frequent (33%) Frequent (79-30%) HP:0001833
16 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
17 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
18 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
19 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
20 short thorax 58 31 occasional (7.5%) Occasional (29-5%) HP:0010306
21 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
22 hydrops fetalis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001789
23 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
24 wide intermamillary distance 58 31 occasional (7.5%) Occasional (29-5%) HP:0006610
25 hypoplastic toenails 58 31 occasional (7.5%) Occasional (29-5%) HP:0001800
26 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
27 anal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002023
28 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
29 hydronephrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000126
30 abnormality of the ribs 58 31 occasional (7.5%) Occasional (29-5%) HP:0000772
31 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
32 congenital diaphragmatic hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000776
33 preaxial hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001177
34 hypotelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000601
35 ambiguous genitalia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000062
36 toe syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001770
37 cerebellar hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001321
38 omphalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0001539
39 congenital megaureter 58 31 occasional (7.5%) Occasional (29-5%) HP:0008676
40 scrotal hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000046
41 aplasia/hypoplasia of the nails 58 Occasional (29-5%)
42 abnormality of the outer ear 58 Occasional (29-5%)

Drugs & Therapeutics for Trisomy 1q

Search Clinical Trials , NIH Clinical Center for Trisomy 1q

Genetic Tests for Trisomy 1q

Anatomical Context for Trisomy 1q

MalaCards organs/tissues related to Trisomy 1q:

40
Myeloid, Bone Marrow, Heart, Kidney, Colon, Bone

Publications for Trisomy 1q

Articles related to Trisomy 1q:

(show top 50) (show all 166)
# Title Authors PMID Year
1
Duplication 1q is highly correlated with poor prognosis in high hyperdiploid pediatric B-acute lymphoblastic leukemia. 61
33073918 2021
2
Hidradenitis suppurativa and chromosomal abnormalities: a case report and systematic review of the literature. 61
33599294 2021
3
The immunohistochemical, DNA methylation, and chromosomal copy number profile of cauda equina paraganglioma is distinct from extra-spinal paraganglioma. 61
32892244 2020
4
A special type of chromosome 1 abnormality in myelodysplastic syndrome patients: duplication 1q. 61
32301121 2020
5
A case of hidradenitis suppurativa linked to trisomy 1q. 61
31535764 2019
6
Mosaic trisomy 1q: a recurring chromosome anomaly that is a diagnostic challenge and is associated with a Fryns-like phenotype. 61
28437579 2017
7
Opposite chromosome constitutions due to a familial translocation t(1;21)(q43;q22) in 2 cousins with development delay and congenital anomalies: A case report. 61
28422838 2017
8
Partial 1q Duplications and Associated Phenotype. 61
27022331 2016
9
Mixed Phenotype Acute Leukemia with t(12;17)(p13;q21)/TAF15-ZNF384 and Other Chromosome Abnormalities. 61
27607436 2016
10
MicroRNA-194-5p could serve as a diagnostic and prognostic biomarker in myelodysplastic syndromes. 61
25975751 2015
11
MICROARRAY DELINEATION OF DE NOVO DUPLICATION 1q32q42 IN A CHILD SHOWING MULTIPLE ANOMALIES AND DYSMORPHISM. 61
26349187 2015
12
Trisomy 1q41-qter and monosomy 3p26.3-pter in a family with a translocation (1;3): further delineation of the syndromes. 61
25223409 2014
13
Extended Antitumor Response of a BRAF V600E Papillary Thyroid Carcinoma to Vemurafenib. 61
24987354 2014
14
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
15
Trisomy 1q32 and monosomy 11q25 associated with congenital heart defect: cytogenomic delineation and patient fourteen years follow-up. 61
25184002 2014
16
Supernumerary isochromosome 1, idic(1)(p12), leading to tetrasomy 1q in Burkitt lymphoma. 61
24217199 2014
17
A rare case of a mosaic unbalanced translocation after chorionic villous sampling. 61
24635464 2013
18
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
19
Successful treatment of ICE-rituximab chemotherapy and subsequent bone marrow transplantation in a patient with early-relapse Burkitt leukemia and inverted duplication of 1q. 61
22258345 2012
20
Unbalanced 1q whole-arm translocation resulting in der(14)t(1;14)(q11-12;p11) in myelodysplastic syndrome. 61
22571950 2012
21
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
22
The distal partial trisomy 1q syndrome and dystonic tremor. 61
21044857 2011
23
Hypoplastic myelodysplastic syndrome (h-MDS) is a distinctive clinical entity with poorer prognosis and frequent karyotypic and FISH abnormalities compared to aplastic anemia (AA). 61
20427085 2010
24
Complex cytogenetic findings in the bone marrow of a chronic idiopathic myelofibrosis patient. 61
27263453 2010
25
Derivative (1)t(1;16)(p11;p11.1) in myelodysplastic syndrome: a case report and review of the literature. 61
19963141 2010
26
Unbalanced translocation in an adult patient with premature ovarian failure and mental retardation detected by spectral karyotyping and array-comparative genomic hybridization. 61
19515099 2009
27
Prenatal diagnosis of mosaic complete trisomy 1q. 61
19610082 2009
28
Mosaic trisomy 1q: The longest surviving case. 61
19610079 2009
29
Multiple chromosome abnormalities in the pleural fluid of a patient with recurrent Ewing sarcoma. 61
19437329 2009
30
Conventional cytogenetics in myelofibrosis: literature review and discussion. 61
19141119 2009
31
Unbalanced chromosome 1 abnormalities leading to partial trisomy 1q in four infants with Down syndrome and acute megakaryocytic leukemia. 61
19228396 2009
32
A partial trisomy 1q patient with a deletion 1q22 and an insertion 1(q42q44) into 1q22. 61
19161140 2009
33
Chronic myelomonocytic leukemia with der(9)t(1;9)(q11;q34) as a sole abnormality. 61
19667417 2009
34
[Correlation of chromosomal aberrations with prognostic markers in multiple myeloma patients--a single institution study]. 61
19127104 2008
35
Partial trisomy 1q41 syndrome delineated by whole genomic array comparative genome hybridization. 61
19119457 2008
36
Pure duplication 1q41-qter: further delineation of trisomy 1q syndromes. 61
18798309 2008
37
Pattern of trisomy 1q in hematological malignancies: a single institution experience. 61
18786437 2008
38
Prenatal sonographic features of trisomy 1q. 61
17661383 2008
39
Role of chromosome 1 pericentric heterochromatin (1q) in pathogenesis of myelodysplastic syndromes: report of 2 new cases. 61
18339374 2008
40
Distal partial trisomy 1q: report of two cases and a review of the literature. 61
17605151 2007
41
Myelodysplastic syndrome with an unbalanced 1;16 translocation in a case of early age of onset. 61
17099874 2007
42
Prenatal diagnosis of partial trisomy 1q and monosomy X in a fetus with a congenital lung lesion and hydrops fetalis. 61
17431907 2007
43
Cytogenetics of agnogenic myeloid metaplasia: a study of 61 patients. 61
17284371 2007
44
Recurrent unbalanced whole-arm t(1;10)(q10;p10) in myelodysplastic syndrome: a case report and literature review. 61
17213027 2007
45
Germ cell tumor showing partial trisomy 1 in a gonadectomized intersex child with monosomy X and double Y mosaicism. 61
17114963 2006
46
Trisomy 1q in a patient with severe aplastic anemia. 61
16875941 2006
47
Identification of 13q deletion, trisomy 1q, and IgH rearrangement as the most frequent chromosomal changes found in Korean patients with multiple myeloma. 61
16843102 2006
48
A case with mosaic partial duplication of 1q: prenatal and postmortem clinical and cytogenetic evaluations. 61
16970038 2006
49
An unusual clinical characterization of a male with distal partial trisomy 1q42.1 and monosomy 4q35.1 and review of the literature. 61
17375530 2006
50
Acute monocytic leukemia and multiple abnormalities in a child with duplication of 1q detected by GTG-banding and SKY. 61
15964069 2005

Variations for Trisomy 1q

Expression for Trisomy 1q

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

Pathways for Trisomy 1q

GO Terms for Trisomy 1q

Sources for Trisomy 1q

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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