MCID: ATS454
MIFTS: 19

Autosomal Trisomy

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Autosomal Trisomy

MalaCards integrated aliases for Autosomal Trisomy:

Name: Autosomal Trisomy 58
Autosomal Duplication 58

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

UMLS via Orphanet 72 C0041107
Orphanet 58 ORPHA98130

Summaries for Autosomal Trisomy

MalaCards based summary : Autosomal Trisomy, also known as autosomal duplication, is related to total autosomal trisomy and partial autosomal trisomy/tetrasomy. Affiliated tissues include heart, brain and testes.

Related Diseases for Autosomal Trisomy

Diseases in the Trisomy 1q family:

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

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

(show all 50)
# Related Disease Score Top Affiliating Genes
1 total autosomal trisomy 12.1
2 partial autosomal trisomy/tetrasomy 12.1
3 patau syndrome 11.5
4 orofaciodigital syndrome viii 11.4
5 chromosomal triplication 10.7
6 down syndrome 10.5
7 48,xyyy 10.1
8 nondisjunction 10.0
9 heart septal defect 10.0
10 47,xyy 10.0
11 bloom syndrome 9.9
12 polydactyly 9.9
13 ventricular septal defect 9.9
14 cleft lip 9.9
15 hypotonia 9.9
16 epicanthus 9.7
17 medulloblastoma 9.7
18 sturge-weber syndrome 9.7
19 velocardiofacial syndrome 9.7
20 hydrops fetalis, nonimmune 9.7
21 alkuraya-kucinskas syndrome 9.7
22 omphalocele 9.7
23 microphthalmia 9.7
24 microcephaly 9.7
25 gonadal dysgenesis 9.7
26 thrombocytopenia 9.7
27 atrial heart septal defect 9.7
28 teratoma 9.7
29 orofaciodigital syndrome 9.7
30 polycythemia 9.7
31 learning disability 9.7
32 macroglobulinemia 9.7
33 46, xy disorders of sexual development 9.7
34 cerebellar hypoplasia 9.7
35 choroid plexus cyst 9.7
36 chromosome 16 trisomy 9.7
37 chromosome 20 trisomy 9.7
38 chromosome 3p duplication 9.7
39 mosaic trisomy 13 9.7
40 mosaic trisomy 8 9.7
41 triploidy 9.7
42 trisomy 2 mosaicism 9.7
43 trisomy 22 9.7
44 weber syndrome 9.7
45 rapidly involuting congenital hemangioma 9.7
46 immune hydrops fetalis 9.7
47 congenital amyoplasia 9.7
48 monosomy 22 9.7
49 distal trisomy 3p 9.7
50 mosaic trisomy 3 9.7

Graphical network of the top 20 diseases related to Autosomal Trisomy:



Diseases related to Autosomal Trisomy

Symptoms & Phenotypes for Autosomal Trisomy

Drugs & Therapeutics for Autosomal Trisomy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The VALUE Study - Women & Infants as the Coordinating Center Active, not recruiting NCT03087357

Search NIH Clinical Center for Autosomal Trisomy

Genetic Tests for Autosomal Trisomy

Anatomical Context for Autosomal Trisomy

MalaCards organs/tissues related to Autosomal Trisomy:

40
Heart, Brain, Testes, Bone, Skin, Placenta

Publications for Autosomal Trisomy

Articles related to Autosomal Trisomy:

(show top 50) (show all 217)
# Title Authors PMID Year
1
Outcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNA. 61
31391534 2020
2
The association between maternal occupation and down syndrome: A report from the national Down syndrome project. 61
31519426 2020
3
Analysis of the genomic expression profile in trisomy 18: insight into possible genes involved in the associated phenotypes. 61
31813999 2020
4
Attitudes of clinicians toward cardiac surgery and trisomy 18. 61
30688390 2019
5
Trisomy 21 in both fetuses in a DCDA twin pregnancy. 61
30988104 2019
6
Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas? 61
30187503 2018
7
Perinatal outcomes following cell-free DNA screening in >32 000 women: Clinical follow-up data from a single tertiary center. 61
29966040 2018
8
Prenatally Diagnosed Rare Trisomy 16 Mosaicism in Human Amniotic Fluid Cells in the Second Trimester: A Case Report. 61
30023470 2018
9
Establishment of a human trisomy 18 induced pluripotent stem cell line from amniotic fluid cells. 61
29862150 2018
10
High resolution global chromosomal aberrations from spontaneous miscarriages revealed by low coverage whole genome sequencing. 61
29525519 2018
11
The Use of Ultrasound as a Potential Adjunct to Cell-Free Fetal DNA Screening for Aneuploidy at Weill Cornell Medical College, New York, USA. 61
29435489 2018
12
Double autosomal trisomy with mosaicism 47,XY(+8)∕47,XY(+21). Morphological and genetic changes of a rare case. 61
30534844 2018
13
Chromosomal karyotype in chorionic villi of recurrent spontaneous abortion patients. 61
29553099 2018
14
Autosomal Trisomy and Triploidy Are Corrected During Female Meiosis in Caenorhabditis elegans. 61
28882988 2017
15
Heterotrisomy recurrence risk: a practical maternal age-dependent approach for excess trisomy 21 risk calculation after a previous autosomal trisomy. 61
27623225 2017
16
Massively Parallel Sequencing (MPS) of Cell-Free Fetal DNA (cffDNA) for Trisomies 21, 18, and 13 in Twin Pregnancies. 61
28485265 2017
17
Next-generation Sequencing and Karyotype Analysis for the Diagnosis of Robertsonian Translocation Type Trisomy 13: A Case Report. 61
28828329 2017
18
Overview of Chromosome Abnormalities in First Trimester Miscarriages: A Series of 1,011 Consecutive Chorionic Villi Sample Karyotypes. 61
28662500 2017
19
Improving the Positive Predictive Value of Non-Invasive Prenatal Screening (NIPS). 61
28248967 2017
20
The Diagnostic Significance of Comorbidities of Congenital Heart Diseases, Low-Set Ears, and Intrauterine Growth Restriction in Neonates With Trisomies 13 and 18. 61
27713807 2016
21
Chromosomal abnormalities not currently detected by cell-free fetal DNA: a retrospective analysis at a single center. 61
26721783 2016
22
Patient choice and clinical outcomes following positive noninvasive prenatal screening for aneuploidy with cell-free DNA (cfDNA). 61
26938930 2016
23
Spectrum of Cytogenomic Abnormalities Revealed by Array Comparative Genomic Hybridization on Products of Conception Culture Failure and Normal Karyotype Samples. 61
27020032 2016
24
An analysis of cardiac defects and surgical interventions in 84 cases with full trisomy 18. 61
26453443 2016
25
Otolaryngologic surgery in children with trisomy 18 and 13. 61
26375930 2015
26
Correction of Down syndrome and Edwards syndrome aneuploidies in human cell cultures. 61
26324424 2015
27
Current knowledge of prenatal diagnosis of mosaic autosomal trisomy in amniocytes: karyotype/phenotype correlations. 61
25976239 2015
28
Epileptic spasms and early-onset photosensitive epilepsy in Patau syndrome: An EEG study. 61
25459971 2015
29
A patient with unusual features and a 69.5 Mb duplication from a de novo extra der (9): a case report. 61
25760145 2015
30
First trimester screening for other trisomies than trisomy 21, 18, and 13. 61
25708180 2015
31
Association of trisomy 18 with hepatoblastoma and its implications. 61
23975412 2014
32
Co-occurrence of non-mosaic trisomy 22 and inherited balanced t(4;6)(q33;q23.3) in a liveborn female: case report and review of the literature. 61
25257307 2014
33
Chorionic villus sampling for early prenatal diagnosis: Experience at a mainland Chinese hospital. 61
24912022 2014
34
An examination of the relationship between hotspots and recombination associated with chromosome 21 nondisjunction. 61
24926858 2014
35
A time stamp comparative analysis of frequent chromosomal abnormalities in Romanian patients. 61
23570267 2014
36
Trisomy 18 syndrome: Towards a balanced approach. 61
27493408 2014
37
Aneuploidy detection in paraffin embedded tissue from products of conception by mini-STR genotyping. 61
22607361 2013
38
Genetic counseling, prenatal screening and diagnosis of Down syndrome in the second trimester in women of advanced maternal age: a prospective study. 61
23769548 2013
39
The trisomy 18 syndrome. 61
23088440 2012
40
Toward optimal detection of the common prenatal aneuploidies by quantitative fluorescent-polymerase chain reaction: comparison of two commercial assays. 61
22747196 2012
41
Rare case of XX/XY mosaicism and trisomy 13 in early prenatal diagnosis. 61
22282126 2012
42
Prenatal diagnosis of mobile flap-like tissue on the ventricular septal defect in a newborn with trisomy 18. 61
21933268 2011
43
Early onset of primary hypogonadism revealed by serum anti-Müllerian hormone determination during infancy and childhood in trisomy 21. 61
21831236 2011
44
A neonatal case of left ventricular noncompaction associated with trisomy 18. 61
21848008 2011
45
Chromosomal abnormalities in spontaneous abortion after assisted reproductive treatment. 61
21044350 2010
46
[Chromosomal mosaicism in spontaneous abortions: analysis of 650 cases]. 61
21254555 2010
47
A trisomy 13 case with Robertsonian translocation presenting with atypical findings. 61
20964120 2010
48
Congenital hydrocephalus in an Egyptian baby with trisomy 18: a case report. 61
19946592 2009
49
Changing demography and variable expressivity in autosomal trisomy syndromes. 61
19750885 2009
50
Prenatal diagnosis of chromosomal abnormalities in a resource-poor setting. 61
18708189 2008

Variations for Autosomal Trisomy

Expression for Autosomal Trisomy

Search GEO for disease gene expression data for Autosomal Trisomy.

Pathways for Autosomal Trisomy

GO Terms for Autosomal Trisomy

Sources for Autosomal Trisomy

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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