MCID: TRS029
MIFTS: 29

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 leukemia. An important gene associated with Trisomy 1q is LRSL (Larsen-Like Syndrome). Affiliated tissues include kidney, myeloid and colon, and related phenotypes are low-set ears and depressed nasal bridge

Related Diseases for Trisomy 1q

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:

60 33 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000369
2 depressed nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0005280
3 wide nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0000445
4 frontal bossing 60 33 frequent (33%) Frequent (79-30%) HP:0002007
5 cystic hygroma 60 33 frequent (33%) Frequent (79-30%) HP:0000476
6 ventriculomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002119
7 multicystic kidney dysplasia 60 33 frequent (33%) Frequent (79-30%) HP:0000003
8 arachnodactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001166
9 narrow mouth 60 33 frequent (33%) Frequent (79-30%) HP:0000160
10 polyhydramnios 60 33 frequent (33%) Frequent (79-30%) HP:0001561
11 increased nuchal translucency 60 33 frequent (33%) Frequent (79-30%) HP:0010880
12 microretrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000308
13 camptodactyly of finger 60 33 frequent (33%) Frequent (79-30%) HP:0100490
14 anophthalmia 60 33 frequent (33%) Frequent (79-30%) HP:0000528
15 long foot 60 33 frequent (33%) Frequent (79-30%) HP:0001833
16 macrocephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000256
17 hypertelorism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000316
18 agenesis of corpus callosum 60 33 occasional (7.5%) Occasional (29-5%) HP:0001274
19 hydrocephalus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000238
20 cleft palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000175
21 patent ductus arteriosus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001643
22 short thorax 60 33 occasional (7.5%) Occasional (29-5%) HP:0010306
23 cryptorchidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000028
24 hydrops fetalis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001789
25 wide intermamillary distance 60 33 occasional (7.5%) Occasional (29-5%) HP:0006610
26 hypoplastic toenails 60 33 occasional (7.5%) Occasional (29-5%) HP:0001800
27 cerebellar hypoplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001321
28 downslanted palpebral fissures 60 33 occasional (7.5%) Occasional (29-5%) HP:0000494
29 anal atresia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002023
30 ventricular septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001629
31 abnormality of the ribs 60 33 occasional (7.5%) Occasional (29-5%) HP:0000772
32 hypotelorism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000601
33 ambiguous genitalia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000062
34 preaxial hand polydactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001177
35 toe syndactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001770
36 hydronephrosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000126
37 congenital megaureter 60 33 occasional (7.5%) Occasional (29-5%) HP:0008676
38 congenital diaphragmatic hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000776
39 omphalocele 60 33 occasional (7.5%) Occasional (29-5%) HP:0001539
40 scrotal hypoplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000046
41 abnormality of the outer ear 60 Occasional (29-5%)
42 aplasia/hypoplasia of the nails 60 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:

42
Kidney, Myeloid, Colon

Publications for Trisomy 1q

Articles related to Trisomy 1q:

(show top 50) (show all 58)
# Title Authors Year
1
Mosaic trisomy 1q: a recurring chromosome anomaly that is a diagnostic challenge and is associated with a Fryns-like phenotype. ( 28437579 )
2017
2
Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: molecular cytogenetic analysis, fetal pathology and review of the literature. ( 24677675 )
2014
3
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. ( 23431743 )
2012
4
The distal partial trisomy 1q syndrome and dystonic tremor. ( 21044857 )
2011
5
Mosaic trisomy 1q: The longest surviving case. ( 19610079 )
2009
6
A partial trisomy 1q patient with a deletion 1q22 and an insertion 1(q42q44) into 1q22. ( 19161140 )
2009
7
Prenatal diagnosis of mosaic complete trisomy 1q. ( 19610082 )
2009
8
Unbalanced chromosome 1 abnormalities leading to partial trisomy 1q in four infants with Down syndrome and acute megakaryocytic leukemia. ( 19228396 )
2009
9
Prenatal sonographic features of trisomy 1q. ( 17661383 )
2008
10
Pattern of trisomy 1q in hematological malignancies: a single institution experience. ( 18786437 )
2008
11
Pure duplication 1q41-qter: further delineation of trisomy 1q syndromes. ( 18798309 )
2008
12
Distal partial trisomy 1q: report of two cases and a review of the literature. ( 17605151 )
2007
13
Prenatal diagnosis of partial trisomy 1q and monosomy X in a fetus with a congenital lung lesion and hydrops fetalis. ( 17431907 )
2007
14
Trisomy 1q in a patient with severe aplastic anemia. ( 16875941 )
2006
15
Identification of 13q deletion, trisomy 1q, and IgH rearrangement as the most frequent chromosomal changes found in Korean patients with multiple myeloma. ( 16843102 )
2006
16
Complete trisomy 1q with mosaic Y;1 translocation: a recurrent aneuploidy presenting diagnostic dilemmas. ( 16152651 )
2005
17
Therapy-related myelodysplastic syndrome with trisomy 1q due to der(1;7) and megakaryoblastic proliferation developing during complete remission of therapy-related acute myeloid leukemia with t(8;21). ( 15335185 )
2004
18
Constitutional t(5;7)(q11;p15) rearranged to acquire monosomy 7q and trisomy 1q in a patient with myelodysplastic syndrome transforming to acute myelocytic leukemia. ( 15036888 )
2004
19
A unique patient with an Ullrich-Turner syndrome variant and mosaicism for a tiny r(X) and a partial proximal duplication 1q. ( 14708105 )
2004
20
Prenatal detection of mosaic trisomy 1q due to an unbalanced translocation in one fetus of a twin pregnancy following in vitro fertilization: a postzygotic error. ( 12884423 )
2003
21
First case of trisomy 13 plus mosaic trisomy 1q. ( 11914563 )
2002
22
Predominance of trisomy 1q in myelodysplastic syndromes in Korea: is there an ethnic difference? A 3-year multi-center study. ( 11850068 )
2002
23
Prenatal diagnosis of complete sole trisomy 1q. ( 11438944 )
2001
24
Clinical and molecular cytogenetic characterization of two patients with partial trisomy 1q41-qter: further delineation of partial trisomy 1q syndrome. ( 11754067 )
2001
25
Prenatally diagnosed sacrococcygeal teratoma: a unique expression of trisomy 1q. ( 10700874 )
2000
26
Trisomy 1q, 2, and 20 in a case of hepatoblastoma: possible significance of 2q35-q37 and 1q12-q21 rearrangements. ( 11150606 )
2000
27
Trisomy 1q generating translocations in Wilms tumor. ( 10686941 )
1999
28
Zygodactyly as the most striking physical anomaly in an adult male patient with pure partial trisomy 1q. ( 9881182 )
1998
29
Partial trisomy 1q with growth hormone deficiency and normal intelligence. ( 9600731 )
1998
30
Partial trisomy 1q (1q32-->1qter) in adulthood: further delineation of the phenotype. ( 9706337 )
1998
31
Detection of a de novo duplication of 1q32-qter by fluorescence in situ hybridisation in a boy with multiple malformations: further delineation of the trisomy 1q syndrome. ( 9138155 )
1997
32
Proximal trisomy 1q in a girl with developmental delay and minor anomalies. ( 8870921 )
1996
33
Constitutional duplication 1q in acute myeloid leukemia. ( 7697642 )
1995
34
Prenatal diagnosis of partial trisomy 1q using fluorescent in situ hybridization. ( 8160748 )
1994
35
Translocation (11;14)(q13;q32) and partial trisomy 1q in a case of multiple myeloma. ( 8213777 )
1993
36
Partial trisomy 1q, an uncommon chromosomal aberration in erythroleukemia. ( 8220123 )
1993
37
Two unrelated children with partial trisomy 1q and monosomy 6p, presenting with the phenotype of the Larsen syndrome. ( 1916762 )
1991
38
Partial trisomy 1q. A nonrandom primary chromosomal abnormality in myelodysplastic syndromes? ( 1756470 )
1991
39
Partial trisomy 1q in idiopathic myelofibrosis. ( 2280601 )
1990
40
Partial duplication 1q: report of four patients and review of the literature. ( 2368800 )
1990
41
Trisomy 1q. ( 2766566 )
1989
42
Combined trisomy 1q and monosomy 17p due to translocation t(1;17) in a patient with myelodysplastic syndrome. ( 3180004 )
1988
43
Trisomy (1q)(q42----qter): confirmation of a syndrome. ( 3233776 )
1988
44
Trisomy 1q in a case of essential thrombocythemia with long survival. ( 3802054 )
1987
45
t(1;2), inv(1) and trisomy 1q during the blastic phase of Philadelphia chromosome-positive chronic myeloid leukemia. ( 3115029 )
1987
46
Single chromosome defect, partial trisomy 1q, in a colon cancer cell line. ( 3594419 )
1987
47
Clinical variability of partial duplication 1q: a clinical report and literature review. ( 3122569 )
1987
48
Trisomy 1q in polycythemia vera and its relation to disease transition. ( 3706291 )
1986
49
Three children with partial trisomy 1q and partial monosomy 3p. ( 3783626 )
1986
50
Trisomy 1q and deletion of 11q in acute myelofibrosis. ( 3929536 )
1985

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....