MCID: TRS029
MIFTS: 30

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 myelodysplastic syndrome. An important gene associated with Trisomy 1q is LRSL (Larsen-Like Syndrome). Affiliated tissues include kidney, bone and myeloid, and related phenotypes are macrocephaly and hypertelorism

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:

59 32 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000256
2 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
3 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
4 agenesis of corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0001274
5 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
6 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
7 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
8 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
9 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
10 short thorax 59 32 occasional (7.5%) Occasional (29-5%) HP:0010306
11 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
12 hydrops fetalis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001789
13 wide intermamillary distance 59 32 occasional (7.5%) Occasional (29-5%) HP:0006610
14 hypoplastic toenails 59 32 occasional (7.5%) Occasional (29-5%) HP:0001800
15 cystic hygroma 59 32 frequent (33%) Frequent (79-30%) HP:0000476
16 ventriculomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002119
17 cerebellar hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001321
18 multicystic kidney dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000003
19 arachnodactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001166
20 downslanted palpebral fissures 59 32 occasional (7.5%) Occasional (29-5%) HP:0000494
21 narrow mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000160
22 anal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002023
23 polyhydramnios 59 32 frequent (33%) Frequent (79-30%) HP:0001561
24 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
25 abnormality of the ribs 59 32 occasional (7.5%) Occasional (29-5%) HP:0000772
26 increased nuchal translucency 59 32 frequent (33%) Frequent (79-30%) HP:0010880
27 hypotelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000601
28 microretrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000308
29 ambiguous genitalia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000062
30 camptodactyly of finger 59 32 frequent (33%) Frequent (79-30%) HP:0100490
31 preaxial hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001177
32 toe syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001770
33 hydronephrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000126
34 wide nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0000445
35 anophthalmia 59 32 frequent (33%) Frequent (79-30%) HP:0000528
36 congenital megaureter 59 32 occasional (7.5%) Occasional (29-5%) HP:0008676
37 congenital diaphragmatic hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000776
38 omphalocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0001539
39 scrotal hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000046
40 long foot 59 32 frequent (33%) Frequent (79-30%) HP:0001833
41 abnormality of the outer ear 59 Occasional (29-5%)
42 aplasia/hypoplasia of the nails 59 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:

41
Kidney, Bone, Myeloid, Lung, Colon, Bone Marrow

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
t(1;2), inv(1) and trisomy 1q during the blastic phase of Philadelphia chromosome-positive chronic myeloid leukemia. ( 3115029 )
1987
45
Single chromosome defect, partial trisomy 1q, in a colon cancer cell line. ( 3594419 )
1987
46
Trisomy 1q in a case of essential thrombocythemia with long survival. ( 3802054 )
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

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74 UMLS via Orphanet
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