Mosaic Trisomy 9 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: MSC021 MIFTS: 30	Mosaic Trisomy 9 Categories: Fetal diseases, Rare diseases
Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Rare diseases Fetal diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Chromosomal abnormalities, not elsewhere classified

Other trisomies and partial trisomies of the autosomes, not elsewhere classified

Whole chromosome trisomy, mosaicism (mitotic nondisjunction)

Orphanet: ⁵⁸

Developmental anomalies during embryogenesis

External Ids:

MESH via Orphanet ⁴⁴ C535454

ICD10 via Orphanet ³³ Q92.1

UMLS via Orphanet ⁷² C2930908

Orphanet ⁵⁸ ORPHA99776

SNOMED-CT via HPO ⁶⁸ 105985007 111266001 11375002 more

UMLS ⁷¹ C2930908

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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

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Related Diseases for Mosaic Trisomy 9

Diseases related to Mosaic Trisomy 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)

#	Related Disease	Score
1	chromosomal triplication	10.6
2	47,xyy	10.2
3	dandy-walker syndrome	10.1
4	microcephaly	10.1
5	oligohydramnios	10.1
6	maternal uniparental disomy	10.1
7	diaphragmatic hernia, congenital	9.9
8	lipomatosis, multiple	9.9
9	hemifacial microsomia	9.9
10	papillomatosis, confluent and reticulated	9.9
11	syringomyelia, noncommunicating isolated	9.9
12	hydrocephalus, congenital, 1	9.9
13	tricuspid atresia	9.9
14	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	9.9
15	helix syndrome	9.9
16	alkuraya-kucinskas syndrome	9.9
17	ptosis	9.9
18	inguinal hernia	9.9
19	renal hypoplasia	9.9
20	pleomorphic lipoma	9.9
21	microphthalmia	9.9
22	hydrocephalus	9.9
23	enophthalmos	9.9
24	leukemia	9.9
25	hellp syndrome	9.9
26	gonadal dysgenesis	9.9
27	ventricular septal defect	9.9
28	heart septal defect	9.9
29	atrial heart septal defect	9.9
30	syringomyelia	9.9
31	teratoma	9.9
32	holoprosencephaly	9.9
33	myeloid leukemia	9.9
34	intracranial hypertension	9.9
35	craniofacial microsomia	9.9
36	arrhinia	9.9
37	bunion	9.9
38	hypotonia	9.9
39	spasticity	9.9
40	isolated arrhinia	9.9
41	congenital amyoplasia	9.9
42	rare chromosomal anomaly	9.9
43	microtia	9.9
44	lobar holoprosencephaly	9.9

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

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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

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Drugs & Therapeutics for Mosaic Trisomy 9

Search Clinical Trials , NIH Clinical Center for Mosaic Trisomy 9

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Genetic Tests for Mosaic Trisomy 9

Genetic tests related to Mosaic Trisomy 9:

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

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Anatomical Context for Mosaic Trisomy 9

MalaCards organs/tissues related to Mosaic Trisomy 9:

⁴⁰

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

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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	Tang HS...Li DZ	29560757	2019
2	Detection of fetal trisomy 9 mosaicism by noninvasive prenatal testing through maternal plasma DNA sequencing. ⁶¹	Lee CY...Shaw SWS	30122585	2018
3	Choroid plexus hyperplasia and chromosome 9p gains. ⁶¹	Boxill M...Thelle T	29663640	2018
4	Clinical manifestations in trisomy 9 mosaicism. ⁶¹	Pejcic L...Nikolic I	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	Culic V...Vulic R	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	Puerta-Roldan P...Ferrer E	28699153	2017
7	Cardiac Failure in a Trisomy 9 Patient Undergoing Anesthesia: A Case Report. ⁶¹	Riley CJ...Ing RJ	28128660	2017
8	Report of a Case with Trisomy 9 Mosaicism. ⁶¹	Miryounesi M...Ghafouri-Fard S	27217611	2016
9	Establishment of human-embryonic-stem-cell line from mosaic trisomy 9 embryo. ⁶¹	Huang B...Liu J	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	Ma J...Pan H	26120364	2015
11	[Detection of mosaic trisomy 9 missed by conventional cytogenetics using SNP-array and fluorescence in situ hybridization]. ⁶¹	Luo Y...Xu C	25119912	2014
12	Mosaic trisomy 9 hematopoietic chimera. ⁶¹	DeLoache KB...Bradshaw WT	24858667	2014
13	Transfusion medicine illustrated: Mosaic Trisomy 9 in an infant with mixed-field ABO blood grouping. ⁶¹	Lockhart EL...Deak K	24015938	2013
14	Another small supernumerary marker chromosome derived from chromosome 9 in a Klinefelter patient. ⁶¹	Gulten T...Yakut T	24020236	2012
15	Mosaic trisomy 9 presenting with congenital heart disease, facial dysmorphism and pigmentary skin lesions: intricate issues of genetic counseling. ⁶¹	Patil SJ...Dalal A	21975655	2012
16	Prenatal diagnosis of mosaic trisomy 9. ⁶¹	Chen CP...Wang W	22212338	2011
17	New report of two patients with mosaic trisomy 9 presenting unusual features and longer survival. ⁶¹	Zen PR...Paskulin GA	22249800	2011
18	Presenting physical characteristics, medical conditions, and developmental status of long-term survivors with trisomy 9 mosaicism. ⁶¹	Bruns D	21485000	2011
19	"Mosaic trachea" in a child with trisomy 9 mosaicism. ⁶¹	Gniady JP...Ladda RL	20727599	2010
20	Mosaic trisomy 9 at amniocentesis: prenatal diagnosis and molecular genetic analyses. ⁶¹	Chen CP...Wang W	21056321	2010
21	Trisomy 9 mosaicism diagnosed in utero. ⁶¹	Takahashi H...Sago H	20706644	2010
22	[Mosaic trisomy 9: report of a new case with a long-term survival]. ⁶¹	Sanchez Zahonero J...Lopez Garcia MJ	18358140	2008
23	Trisomy 9 mosaicism and XX sex reversal. ⁶¹	Solomon BD...Sparks SE	17935231	2007
24	Array-CGH analysis of cell-free fetal DNA in 10 mL of amniotic fluid supernatant. ⁶¹	Lapaire O...Bianchi DW	17510923	2007
25	Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. ⁶¹	Friedman JM...Marra MA	16909388	2006
26	Discrepancies in cytogenetic results between amniocytes and postnatally obtained blood: trisomy 9 mosaicism. ⁶¹	Kosaki R...Okuyama T	16732770	2006
27	Dental management of a child with trisomy 9 mosaicism: a case report. ⁶¹	Moskovitz M...Annick RR	16805360	2006
28	Fetoplacental and fetoamniotic chromosomal discrepancies in prenatally detected mosaic trisomy 9. ⁶¹	Chen CP...Liao YW	14663842	2003
29	Antenatal detection of mosaic trisomy 9 by ultrasound: a case report and literature review. ⁶¹	Stipoljev F...Kurjak A	14563095	2003
30	Mosaic trisomy 9 and lobar holoprosencephaly. ⁶¹	Gerard-Blanluet M...Encha-Razavi F	12210326	2002
31	Varix of the portal vein: prenatal diagnosis in a fetus with mosaic trisomy 9 syndrome. ⁶¹	Tseng JJ...Shih-Chu Ho E	12116313	2002
32	Complex cerebral malformation including Dandy-Walker in a newborn with trisomy 9 mosaicism. ⁶¹	Murru P...Silengo M	11976623	2002
33	Tissue specific mosaicism of trisomy 9 in a patient with severe torsion scoliosis. ⁶¹	Morava E...Kosztolanyi GY	12558117	2002
34	High resolution comparative genomic hybridisation in clinical cytogenetics. ⁶¹	Kirchhoff M...Lundsteen C	11694545	2001
35	Hemifacial microsomia in two patients further supporting chromosomal mosaicism as a causative factor. ⁶¹	de Ravel TJ...Fryns JP	11666000	2001
36	A case of maternal uniparental disomy of chromosome 9 diagnosed prenatally and the related problem of residual trisomy. ⁶¹	Slater HR...Roberts C	11113900	2000
37	[Hypomelanosis Ito in translocation trisomy 9/mosaicism (46,XX/46,XX,t(9;9)(p24;p24)). Spontaneous remission in childhood]. ⁶¹	Dereser-Dennl M...Konig R	11057398	2000
38	Two patients with trisomy 9 mosaicism. ⁶¹	Okumura A...Watanabe K	10703244	2000
39	Chronic myeloid leukemia in chronic phase with a partial trisomy 9 mosaicism. ⁶¹	Vargas MT...Fernandez-Novoa MC	10586217	1999
40	Atypical manifestations of two cases of trisomy 9 syndrome: rethinking development delay. ⁶¹	Saneto RP...Frankel DG	9800910	1998
41	Prenatal diagnosis of trisomy 9: cytogenetic, fish, and DNA studies. ⁶¹	Van den Berg C...Los FJ	9358573	1997
42	A case of maternal uniparental disomy of chromosome 9 in association with confined placental mosaicism for trisomy 9. ⁶¹	Wilkinson TA...Temple IK	8734817	1996
43	[HELLP syndrome in the 21st week of pregnancy in mosaic trisomy 9]. ⁶¹	Reister F...Rath W	9082704	1996
44	Trisomy 9 mosaicism in a child with a tethered cord. ⁶¹	Lindor NM...Shaughnessy W	7606325	1995
45	Trisomy 9 syndrome: report of a case with Crohn disease and review of the literature. ⁶¹	Wooldridge J...Zunich J	7778585	1995
46	Trisomy 9 mosaicism syndrome. A case report and review of the literature. ⁶¹	Tarani L...Vignetti P	8010707	1994
47	Prenatal diagnosis of trisomy 9 mosaicism: two new cases. ⁶¹	Merino A...Bellec V	8309895	1993
48	Trisomy 9 mosaicism in two girls with multiple congenital malformations and mental retardation. ⁶¹	Stoll C...Luckel JC	8320712	1993
49	Prenatal diagnosis of trisomy 9 mosaic presenting as a case of Dandy-Walker malformation. ⁶¹	Bureau YA...Fouquet B	8464839	1993
50	A male with trisomy 9 mosaicism and maternal uniparental disomy for chromosome 9 in the euploid cell line. ⁶¹	Willatt LR...Ferguson-Smith ME	1433238	1992

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Genes for Mosaic Trisomy 9

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Variations for Mosaic Trisomy 9

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Expression for Mosaic Trisomy 9

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

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Pathways for Mosaic Trisomy 9

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GO Terms for Mosaic Trisomy 9

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Sources for Mosaic Trisomy 9

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