MCID: CMP097
MIFTS: 25

Complex Chromosomal Rearrangement

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Complex Chromosomal Rearrangement

MalaCards integrated aliases for Complex Chromosomal Rearrangement:

Name: Complex Chromosomal Rearrangement 58

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA263708

Summaries for Complex Chromosomal Rearrangement

MalaCards based summary : Complex Chromosomal Rearrangement is related to branchiootic syndrome and branchiootorenal syndrome. An important gene associated with Complex Chromosomal Rearrangement is SOX3 (SRY-Box Transcription Factor 3). Affiliated tissues include myeloid, heart and lung, and related phenotypes are endocrine/exocrine gland and nervous system

Related Diseases for Complex Chromosomal Rearrangement

Diseases related to Complex Chromosomal Rearrangement via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 166)
# Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 29.4 SIX6 SIX1
2 branchiootorenal syndrome 29.2 SIX6 SIX1 OTX2
3 chromosomal triplication 10.4
4 infertility 10.3
5 azoospermia 10.3
6 alacrima, achalasia, and mental retardation syndrome 10.2
7 pituitary hypoplasia 10.2 SOX3 OTX2
8 microcephaly 10.2
9 male infertility 10.2
10 pituitary hormone deficiency, combined, 2 10.2 SOX3 OTX2
11 leukemia, chronic myeloid 10.1
12 myeloid leukemia 10.1
13 hypotonia 10.1
14 myelodysplastic syndrome 10.1
15 isolated microphthalmia 10.0 SIX6 OTX2
16 isolated growth hormone deficiency 10.0 SOX3 OTX2
17 cleft palate, isolated 10.0
18 cri-du-chat syndrome 10.0
19 leukemia, acute myeloid 10.0
20 brachydactyly 10.0
21 leukemia 10.0
22 cleft lip 10.0
23 47,xyy 10.0
24 cleft lip/palate 10.0
25 syndromic microphthalmia 10.0 SIX6 OTX2
26 optic nerve hypoplasia, bilateral 9.9 SIX6 OTX2
27 septooptic dysplasia 9.9 SOX3 OTX2
28 saethre-chotzen syndrome 9.9
29 cleidocranial dysplasia 9.9
30 hypertelorism 9.9
31 strabismus 9.9
32 down syndrome 9.9
33 autism 9.9
34 mowat-wilson syndrome 9.9
35 retinitis pigmentosa 11 9.9
36 diffuse large b-cell lymphoma 9.9
37 pervasive developmental disorder 9.9
38 ptosis 9.9
39 cerebellar hypoplasia 9.9
40 hypogonadotropic hypogonadism 9.9
41 synostosis 9.9
42 amenorrhea 9.9
43 oligospermia 9.9
44 heart septal defect 9.9
45 craniosynostosis 9.9
46 psychotic disorder 9.9
47 b-cell lymphoma 9.9
48 learning disability 9.9
49 mechanical strabismus 9.9
50 cleidocranial dysplasia spectrum disorder 9.9

Graphical network of the top 20 diseases related to Complex Chromosomal Rearrangement:



Diseases related to Complex Chromosomal Rearrangement

Symptoms & Phenotypes for Complex Chromosomal Rearrangement

MGI Mouse Phenotypes related to Complex Chromosomal Rearrangement:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.5 ABCD1 OTX2 PRDM16 RUNX1 SIX1 SIX6
2 nervous system MP:0003631 9.28 ABCD1 DOCK3 OTX2 PRDM16 RUNX1 SIX1

Drugs & Therapeutics for Complex Chromosomal Rearrangement

Search Clinical Trials , NIH Clinical Center for Complex Chromosomal Rearrangement

Genetic Tests for Complex Chromosomal Rearrangement

Anatomical Context for Complex Chromosomal Rearrangement

MalaCards organs/tissues related to Complex Chromosomal Rearrangement:

40
Myeloid, Heart, Lung, Salivary Gland, Testes, T Cells, B Cells

Publications for Complex Chromosomal Rearrangement

Articles related to Complex Chromosomal Rearrangement:

(show top 50) (show all 162)
# Title Authors PMID Year
1
Complex Chromosomal Rearrangement: A Case Report to Emphasize the Need for Parental Karyotyping and Genetic Counseling. 61
32577072 2020
2
Challenges in identifying large germline structural variants for clinical use by long read sequencing. 61
32099591 2020
3
Whole-genome mate-pair sequencing of apparently balanced chromosome rearrangements reveals complex structural variations: two case studies. 61
32391085 2020
4
Failure of NIPT to detect constitutional chromoanasynthesis involving chromosome 21 in a case of fetal hydrops-A case report. 61
31788271 2019
5
Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome. 61
31033088 2019
6
A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign. 61
31223340 2019
7
Two novel fusion genes, AIF1L-ETV6 and ABL1-AIF1L, result together with ETV6-ABL1 from a single chromosomal rearrangement in acute lymphoblastic leukemia with prenatal origin. 61
29726059 2018
8
Preimplantation genetic testing for complex chromosomal rearrangement carriers by next-generation sequencing. 61
30314889 2018
9
A novel male 2;4;14 complex chromosomal translocation with normal semen parameters but 100% embryonic aneuploidy. 61
29380280 2018
10
Characterization of a complex chromosomal rearrangement involving chromosomes 1, 3, and 4 in a slightly affected male with bad obstetrics history. 61
29359264 2018
11
Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement. 61
29930709 2018
12
FGFR1 disruption identified by whole genome sequencing in a male with a complex chromosomal rearrangement and hypogonadotropic hypogonadism. 61
29160040 2018
13
RNA sequencing of esophageal adenocarcinomas identifies novel fusion transcripts, including NPC1-MELK, arising from a complex chromosomal rearrangement. 61
28640357 2017
14
Complex chromosomal rearrangement-a lesson learned from PGS. 61
28555358 2017
15
Characterization of genetic aberrations in a single case of metastatic thymic adenocarcinoma. 61
28506304 2017
16
Clinical characterization of novel chromosome 22q13 microdeletions. 61
28576520 2017
17
Induced pluripotent stem cell generation from a man carrying a complex chromosomal rearrangement as a genetic model for infertility studies. 61
28045072 2017
18
PMS2 inactivation by a complex rearrangement involving an HERV retroelement and the inverted 100-kb duplicon on 7p22.1. 61
27329736 2016
19
A case of prenatal detection of a de novo unbalanced complex chromosomal rearrangement involving four chromosomes. 61
30480420 2016
20
Complex chromosomal rearrangement involving five chromosomes: deciphering genomic imbalances in an apparently balanced chromosomal translocation. 61
26866301 2016
21
Heterogeneity of a Constitutional Complex Chromosomal Rearrangement in 2q. 61
27216161 2016
22
Complex translocation t(1;12;14)(q42;q14;q32) and HMGA2 deletion in a fetus presenting growth delay and bilateral cataracts. 61
26386246 2015
23
Whole-Genome Sequencing of Growth Hormone (GH)-Secreting Pituitary Adenomas. 61
26280510 2015
24
Abnormal meiotic recombination with complex chromosomal rearrangement in an azoospermic man. 61
25892501 2015
25
Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization. 61
25712135 2015
26
RCSD1-ABL2 fusion resulting from a complex chromosomal rearrangement in high-risk B-cell acute lymphoblastic leukemia. 61
25098428 2015
27
The sh2-R allele of the maize shrunken-2 locus was caused by a complex chromosomal rearrangement. 61
25504539 2015
28
Exceptional complex chromosomal rearrangements in three generations. 61
25722897 2015
29
Are submicroscopic chromosomal inversions predisposing factors for the t(9;22)(q34;q11.2) translocation in chronic myeloid leukemia? 61
25741382 2015
30
Characterization of a Complex Chromosomal Rearrangement Involving a de novo Duplication of 9p and 9q and a Deletion of 9q. 61
26900692 2015
31
Language impairment in a case of a complex chromosomal rearrangement with a breakpoint downstream of FOXP2. 61
26060509 2015
32
Molecular characterization of complex chromosomal rearrangement: first report of novel t(7;12) (q11;q22) as part of a complex karyotype in de novo AML-M2 case. 61
25286747 2014
33
[Characteristics of complex chromosomal rearrangement in Chinese male carriers and its impact on male fertility]. 61
25597181 2014
34
Constitutional chromoanasynthesis: description of a rare chromosomal event in a patient. 61
25128687 2014
35
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome in an adolescent with complex chromosomal rearrangement and intellectual disability. 61
25081192 2014
36
Brief Report: Involvement of TNFRSF11A molecular defects in autoinflammatory disorders. 61
24891336 2014
37
TBLR1 fuses to retinoid acid receptor α in a variant t(3;17)(q26;q21) translocation of acute promyelocytic leukemia. 61
24782508 2014
38
Prenatal diagnosis of craniosynostosis (compound Saethre-Chotzen syndrome phenotype) caused by a de novo complex chromosomal rearrangement (1; 4; 7) with a microdeletion of 7p21.3-7p15.3, including TWIST1 gene--a case report. 61
25118508 2014
39
Association of CDH11 with non-syndromic ASD. 61
24839052 2014
40
Maternal complex chromosomal rearrangement leads to TCF12 microdeletion in a patient presenting with coronal craniosynostosis and intellectual disability. 61
24648389 2014
41
A rare complex chromosomal rearrangement in an oligospermic male: a case report and review of the Chinese literature. 61
24457837 2014
42
A unique case of a discontinuous duplication 3q26.1-3q28 resulting from a segregation error of a maternal complex chromosomal rearrangement involving an insertion and an inversion. 61
24316129 2014
43
Characterization of a complex chromosomal rearrangement using chromosome, FISH, and microarray assays in a girl with multiple congenital abnormalities and developmental delay. 61
25478007 2014
44
Identification of a balanced complex chromosomal rearrangement involving chromosomes 3, 18 and 21 with recurrent abortion: case report. 61
24959204 2014
45
A Rare De novo Complex Chromosomal Rearrangement (CCR) Involving Four Chromosomes in An Oligo-asthenosperm Infertile Man. 61
24611143 2014
46
Characterization of a balanced complex chromosomal rearrangement carrier ascertained through a fetus with dup15q26.3 and del5p15.33: case report. 61
23905868 2013
47
Complete and pure trisomy 18p due to a complex chromosomal rearrangement in a male adult with mild intellectual disability. 61
23695988 2013
48
Derivative chromosome 11 in a child resulting from a complex rearrangement involving chromosomes 3, 6 and 11 in father: Significance of parental karyotyping. 61
24019632 2013
49
A 5q12.1-5q12.3 microdeletion in a case with a balanced exceptional complex chromosomal rearrangement. 61
23262338 2013
50
Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations. 61
23315544 2013

Variations for Complex Chromosomal Rearrangement

Expression for Complex Chromosomal Rearrangement

Search GEO for disease gene expression data for Complex Chromosomal Rearrangement.

Pathways for Complex Chromosomal Rearrangement

GO Terms for Complex Chromosomal Rearrangement

Cellular components related to Complex Chromosomal Rearrangement according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription factor complex GO:0005667 9.13 SOX3 SIX6 SIX1
2 nuclear chromatin GO:0000790 9.02 SOX3 SIX6 SIX1 RUNX1 OTX2

Biological processes related to Complex Chromosomal Rearrangement according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.71 SOX3 SIX1 RUNX1 PRDM16
2 positive regulation of transcription, DNA-templated GO:0045893 9.56 SIX1 RUNX1 PRDM16 OTX2
3 regulation of transcription, DNA-templated GO:0006355 9.43 SOX3 SIX6 SIX1 RUNX1 PRDM16 OTX2
4 neurogenesis GO:0022008 9.37 SIX1 PRDM16
5 anatomical structure development GO:0048856 9.32 SIX6 SIX1
6 positive regulation of brown fat cell differentiation GO:0090336 9.16 SIX1 PRDM16
7 tongue development GO:0043586 8.62 SIX1 PRDM16

Molecular functions related to Complex Chromosomal Rearrangement according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.63 SOX3 SIX6 SIX1 RUNX1 PRDM16 OTX2
2 transcription regulatory region sequence-specific DNA binding GO:0000976 9.43 SIX6 SIX1 RUNX1
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.26 SIX6 SIX1 RUNX1 OTX2
4 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.02 SOX3 SIX6 SIX1 RUNX1 OTX2

Sources for Complex Chromosomal Rearrangement

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
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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