MCID: MSC021
MIFTS: 30

Mosaic Trisomy 9

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Mosaic Trisomy 9

MalaCards integrated aliases for Mosaic Trisomy 9:

Name: Mosaic Trisomy 9 52 58
Chromosome 9, Trisomy Mosaic 29 71
Mosaic Trisomy Chromosome 9 52 58
Trisomy 9 Mosaicism 52 58

Characteristics:

Orphanet epidemiological data:

58
mosaic trisomy 9
Age of onset: Infancy,Neonatal; Age of death: infantile;

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Mosaic Trisomy 9

NIH Rare Diseases : 52 Mosaic trisomy 9 is a chromosomal abnormality that can affect may parts of the body. In people affected by this condition, some of the body's cells have three copies of chromosome 9 (trisomy), while other cells have the usual two copies of this chromosome . The signs and symptoms vary but may include mild to severe intellectual disability , developmental delay , growth problems (both before and after birth), congenital heart defects , and/or abnormalities of the craniofacial (skull and face) region. Most cases are not inherited ; it often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm) or as the fertilized egg divides. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Mosaic Trisomy 9, also known as chromosome 9, trisomy mosaic, is related to chromosomal triplication and 47,xyy. Affiliated tissues include heart, kidney and liver, and related phenotypes are low-set ears and intellectual disability

Related Diseases for Mosaic Trisomy 9

Graphical network of the top 20 diseases related to Mosaic Trisomy 9:



Diseases related to Mosaic Trisomy 9

Symptoms & Phenotypes for Mosaic Trisomy 9

Human phenotypes related to Mosaic Trisomy 9:

58 31 (show top 50) (show all 62)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
2 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
3 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
4 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
5 microphthalmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000568
6 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
7 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
8 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
9 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
10 ventricular septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001629
11 limitation of joint mobility 58 31 frequent (33%) Frequent (79-30%) HP:0001376
12 talipes equinovarus 58 31 frequent (33%) Frequent (79-30%) HP:0001762
13 hip dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0002827
14 rocker bottom foot 58 31 frequent (33%) Frequent (79-30%) HP:0001838
15 oligohydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001562
16 bulbous nose 58 31 frequent (33%) Frequent (79-30%) HP:0000414
17 hypoplasia of penis 58 31 frequent (33%) Frequent (79-30%) HP:0008736
18 large fontanelles 58 31 frequent (33%) Frequent (79-30%) HP:0000239
19 facial cleft 58 31 frequent (33%) Frequent (79-30%) HP:0002006
20 finger clinodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0040019
21 hypoplastic female external genitalia 58 31 frequent (33%) Frequent (79-30%) HP:0012815
22 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
23 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
24 skeletal dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002652
25 corneal opacity 58 31 occasional (7.5%) Occasional (29-5%) HP:0007957
26 horseshoe kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000085
27 small nail 58 31 occasional (7.5%) Occasional (29-5%) HP:0001792
28 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
29 polyhydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001561
30 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
31 abnormal heart valve morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001654
32 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
33 micromelia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002983
34 biparietal narrowing 58 31 occasional (7.5%) Occasional (29-5%) HP:0004422
35 prominent occiput 58 31 occasional (7.5%) Occasional (29-5%) HP:0000269
36 hydrops fetalis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001789
37 webbed neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000465
38 cystic hygroma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000476
39 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
40 hydronephrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000126
41 upslanted palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0000582
42 dandy-walker malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001305
43 supernumerary ribs 58 31 occasional (7.5%) Occasional (29-5%) HP:0005815
44 multiple renal cysts 58 31 occasional (7.5%) Occasional (29-5%) HP:0005562
45 hemivertebrae 58 31 occasional (7.5%) Occasional (29-5%) HP:0002937
46 abnormality of the uterus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000130
47 spina bifida 58 31 occasional (7.5%) Occasional (29-5%) HP:0002414
48 intestinal malrotation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002566
49 elbow dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0003042
50 hypotelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000601

Drugs & Therapeutics for Mosaic Trisomy 9

Search Clinical Trials , NIH Clinical Center for Mosaic Trisomy 9

Genetic Tests for Mosaic Trisomy 9

Genetic tests related to Mosaic Trisomy 9:

# Genetic test Affiliating Genes
1 Chromosome 9, Trisomy Mosaic 29

Anatomical Context for Mosaic Trisomy 9

MalaCards organs/tissues related to Mosaic Trisomy 9:

40
Heart, Kidney, Liver, Lung, Uterus, Testes, Eye

Publications for Mosaic Trisomy 9

Articles related to Mosaic Trisomy 9:

(show top 50) (show all 75)
# Title Authors PMID Year
1
Chromosomal microarray analysis detects trisomy 9 mosaicism in a prenatal case not revealed by conventional cytogenetic analysis of cord blood. 61
29560757 2019
2
Detection of fetal trisomy 9 mosaicism by noninvasive prenatal testing through maternal plasma DNA sequencing. 61
30122585 2018
3
Choroid plexus hyperplasia and chromosome 9p gains. 61
29663640 2018
4
Clinical manifestations in trisomy 9 mosaicism. 61
31365211 2018
5
A Familial Small Supernumerary Marker Chromosome 15 Associated with Cryptic Mosaicism with Two Different Additional Marker Chromosomes Derived de novo from Chromosome 9: Detailed Case Study and Implications for Recurrent Pregnancy Loss. 61
30466092 2018
6
[Hydrocephalus due to hyperplasia of the choroid plexuses in a patient with trisomy 9 mosaicism. A real diagnostic and therapeutic challenge]. 61
28699153 2017
7
Cardiac Failure in a Trisomy 9 Patient Undergoing Anesthesia: A Case Report. 61
28128660 2017
8
Report of a Case with Trisomy 9 Mosaicism. 61
27217611 2016
9
Establishment of human-embryonic-stem-cell line from mosaic trisomy 9 embryo. 61
26522100 2015
10
Birth of a child with trisomy 9 mosaicism syndrome associated with paternal isodisomy 9: case of a positive noninvasive prenatal test result unconfirmed by invasive prenatal diagnosis. 61
26120364 2015
11
[Detection of mosaic trisomy 9 missed by conventional cytogenetics using SNP-array and fluorescence in situ hybridization]. 61
25119912 2014
12
Mosaic trisomy 9 hematopoietic chimera. 61
24858667 2014
13
Transfusion medicine illustrated: Mosaic Trisomy 9 in an infant with mixed-field ABO blood grouping. 61
24015938 2013
14
Another small supernumerary marker chromosome derived from chromosome 9 in a Klinefelter patient. 61
24020236 2012
15
Mosaic trisomy 9 presenting with congenital heart disease, facial dysmorphism and pigmentary skin lesions: intricate issues of genetic counseling. 61
21975655 2012
16
Prenatal diagnosis of mosaic trisomy 9. 61
22212338 2011
17
New report of two patients with mosaic trisomy 9 presenting unusual features and longer survival. 61
22249800 2011
18
Presenting physical characteristics, medical conditions, and developmental status of long-term survivors with trisomy 9 mosaicism. 61
21485000 2011
19
"Mosaic trachea" in a child with trisomy 9 mosaicism. 61
20727599 2010
20
Mosaic trisomy 9 at amniocentesis: prenatal diagnosis and molecular genetic analyses. 61
21056321 2010
21
Trisomy 9 mosaicism diagnosed in utero. 61
20706644 2010
22
[Mosaic trisomy 9: report of a new case with a long-term survival]. 61
18358140 2008
23
Trisomy 9 mosaicism and XX sex reversal. 61
17935231 2007
24
Array-CGH analysis of cell-free fetal DNA in 10 mL of amniotic fluid supernatant. 61
17510923 2007
25
Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. 61
16909388 2006
26
Discrepancies in cytogenetic results between amniocytes and postnatally obtained blood: trisomy 9 mosaicism. 61
16732770 2006
27
Dental management of a child with trisomy 9 mosaicism: a case report. 61
16805360 2006
28
Fetoplacental and fetoamniotic chromosomal discrepancies in prenatally detected mosaic trisomy 9. 61
14663842 2003
29
Antenatal detection of mosaic trisomy 9 by ultrasound: a case report and literature review. 61
14563095 2003
30
Mosaic trisomy 9 and lobar holoprosencephaly. 61
12210326 2002
31
Varix of the portal vein: prenatal diagnosis in a fetus with mosaic trisomy 9 syndrome. 61
12116313 2002
32
Complex cerebral malformation including Dandy-Walker in a newborn with trisomy 9 mosaicism. 61
11976623 2002
33
Tissue specific mosaicism of trisomy 9 in a patient with severe torsion scoliosis. 61
12558117 2002
34
High resolution comparative genomic hybridisation in clinical cytogenetics. 61
11694545 2001
35
Hemifacial microsomia in two patients further supporting chromosomal mosaicism as a causative factor. 61
11666000 2001
36
A case of maternal uniparental disomy of chromosome 9 diagnosed prenatally and the related problem of residual trisomy. 61
11113900 2000
37
[Hypomelanosis Ito in translocation trisomy 9/mosaicism (46,XX/46,XX,t(9;9)(p24;p24)). Spontaneous remission in childhood]. 61
11057398 2000
38
Two patients with trisomy 9 mosaicism. 61
10703244 2000
39
Chronic myeloid leukemia in chronic phase with a partial trisomy 9 mosaicism. 61
10586217 1999
40
Atypical manifestations of two cases of trisomy 9 syndrome: rethinking development delay. 61
9800910 1998
41
Prenatal diagnosis of trisomy 9: cytogenetic, fish, and DNA studies. 61
9358573 1997
42
A case of maternal uniparental disomy of chromosome 9 in association with confined placental mosaicism for trisomy 9. 61
8734817 1996
43
[HELLP syndrome in the 21st week of pregnancy in mosaic trisomy 9]. 61
9082704 1996
44
Trisomy 9 mosaicism in a child with a tethered cord. 61
7606325 1995
45
Trisomy 9 syndrome: report of a case with Crohn disease and review of the literature. 61
7778585 1995
46
Trisomy 9 mosaicism syndrome. A case report and review of the literature. 61
8010707 1994
47
Prenatal diagnosis of trisomy 9 mosaicism: two new cases. 61
8309895 1993
48
Trisomy 9 mosaicism in two girls with multiple congenital malformations and mental retardation. 61
8320712 1993
49
Prenatal diagnosis of trisomy 9 mosaic presenting as a case of Dandy-Walker malformation. 61
8464839 1993
50
A male with trisomy 9 mosaicism and maternal uniparental disomy for chromosome 9 in the euploid cell line. 61
1433238 1992

Variations for Mosaic Trisomy 9

Expression for Mosaic Trisomy 9

Search GEO for disease gene expression data for Mosaic Trisomy 9.

Pathways for Mosaic Trisomy 9

GO Terms for Mosaic Trisomy 9

Sources for Mosaic Trisomy 9

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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