MCID: TTR012
MIFTS: 29

Tetrasomy 9p

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Tetrasomy 9p

MalaCards integrated aliases for Tetrasomy 9p:

Name: Tetrasomy 9p 52 58
Tetrasomy of Short Arm of Chromosome 9 52
Chromosome 9, Tetrasomy 9p 71
Chromosome 9p Tetrasomy 52
Mosaic Tetrasomy 9p 52
Isochromosome 9p 58

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Tetrasomy 9p

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3310 Definition Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability , hypotonia , microcephaly , dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus ), cleft lip /palate, skeletal abnormalities (hypoplastic nails/distal phalanges, short stature , short neck, contractures ), congenital heart defects , renal and urogenital malformations (renal hypoplasia, genital hypoplasia, cryptorchidism). Visit the Orphanet disease page for more resources.

MalaCards based summary : Tetrasomy 9p, also known as tetrasomy of short arm of chromosome 9, is related to 47,xyy and chromosomal triplication. Affiliated tissues include heart, eye and spinal cord, and related phenotypes are hypertelorism and global developmental delay

Wikipedia : 74 Tetrasomy 9p (also known Tetrasomy 9p Syndrome) is a rare chromosomal disorder characterized by the... more...

Related Diseases for Tetrasomy 9p

Graphical network of the top 20 diseases related to Tetrasomy 9p:



Diseases related to Tetrasomy 9p

Symptoms & Phenotypes for Tetrasomy 9p

Human phenotypes related to Tetrasomy 9p:

58 31 (show top 50) (show all 83)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
2 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
3 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
4 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
5 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
6 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
7 deeply set eye 58 31 frequent (33%) Frequent (79-30%) HP:0000490
8 amblyopia 58 31 frequent (33%) Frequent (79-30%) HP:0000646
9 abnormality of earlobe 58 31 frequent (33%) Frequent (79-30%) HP:0000363
10 large beaked nose 58 31 frequent (33%) Frequent (79-30%) HP:0003683
11 pilomatrixoma 58 31 frequent (33%) Frequent (79-30%) HP:0030434
12 short neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000470
13 joint dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001373
14 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
15 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
16 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
17 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
18 arthritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001369
19 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
20 intrauterine growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001511
21 fatigue 58 31 occasional (7.5%) Occasional (29-5%) HP:0012378
22 sacral dimple 58 31 occasional (7.5%) Occasional (29-5%) HP:0000960
23 generalized hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001290
24 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
25 recurrent urinary tract infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0000010
26 pericarditis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001701
27 myositis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100614
28 specific learning disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001328
29 jaundice 58 31 occasional (7.5%) Occasional (29-5%) HP:0000952
30 talipes equinovarus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001762
31 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
32 small hand 58 31 occasional (7.5%) Occasional (29-5%) HP:0200055
33 hydronephrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000126
34 absent gallbladder 58 31 occasional (7.5%) Occasional (29-5%) HP:0011467
35 downturned corners of mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0002714
36 dandy-walker malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001305
37 multiple renal cysts 58 31 occasional (7.5%) Occasional (29-5%) HP:0005562
38 dental crowding 58 31 occasional (7.5%) Occasional (29-5%) HP:0000678
39 bilateral single transverse palmar creases 58 31 occasional (7.5%) Occasional (29-5%) HP:0007598
40 bulbous nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000414
41 abnormal mitral valve morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001633
42 infertility 58 31 occasional (7.5%) Occasional (29-5%) HP:0000789
43 large fontanelles 58 31 occasional (7.5%) Occasional (29-5%) HP:0000239
44 polymicrogyria 58 31 occasional (7.5%) Occasional (29-5%) HP:0002126
45 missing ribs 58 31 occasional (7.5%) Occasional (29-5%) HP:0000921
46 pachygyria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001302
47 oligospermia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000798
48 hemihypertrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001528
49 bifid uvula 58 31 occasional (7.5%) Occasional (29-5%) HP:0000193
50 median cleft lip and palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0008501

Drugs & Therapeutics for Tetrasomy 9p

Search Clinical Trials , NIH Clinical Center for Tetrasomy 9p

Genetic Tests for Tetrasomy 9p

Anatomical Context for Tetrasomy 9p

MalaCards organs/tissues related to Tetrasomy 9p:

40
Heart, Eye, Spinal Cord, Kidney, Bone

Publications for Tetrasomy 9p

Articles related to Tetrasomy 9p:

(show top 50) (show all 57)
# Title Authors PMID Year
1
A high level of tetrasomy 9p mosaicism but no clinical manifestations other than moderate oligozoospermia with chromosomally balanced sperm: a case report. 61
31981038 2020
2
Mosaic Tetrasomy 9p Associated With Inflammatory Bowel Disease. 61
31104071 2019
3
A Systematic Clinical Review of Prenatally Diagnosed Tetrasomy 9p. 61
31523615 2019
4
Case presentation: persistent adenovirus B3 infections associated with bronchiolitis obliterans treated with cidofovir in a child with mosaic tetrasomy 9p. 61
30348093 2018
5
Mosaic Tetrasomy of 9p24.3q21.11 postnatally identified in an infant born with multiple congenital malformations: a case report. 61
30193577 2018
6
Choroid plexus hyperplasia and chromosome 9p gains. 61
29663640 2018
7
[Misdiagnosis of mosaic tetrasomy 9p in a fetus by single nucleotide polymorphism-based array]. 61
26663059 2015
8
Mosaic Tetrasomy 9p: A Mendelian Condition Associated With Pediatric-Onset Overlap Myositis. 61
26216333 2015
9
Prenatal diagnosis and findings of tetrasomy 9p. 61
25944096 2015
10
Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature review. 61
25847481 2015
11
Prenatal diagnosis of mosaic tetrasomy 9p in a fetus with isolated persistent left superior vena cava. 61
25951732 2015
12
Mosaic tetrasomy 9p at amniocentesis: prenatal diagnosis, molecular cytogenetic characterization, and literature review. 61
24767652 2014
13
Phenotypic features associated with mosaic tetrasomy 9p in a 20-year-old female patient include autism spectrum disorder. 61
22876595 2012
14
Tetrasomy 9p mosaicism associated with a normal phenotype in two cases. 61
22487875 2012
15
Absent nasal bone as a marker of tetrasomy 9p. 61
22031456 2011
16
Tissue-specific mosaicism for tetrasomy 9p uncovered by array CGH. 61
21998854 2011
17
HDR Syndrome (Hypoparathyroidism, Sensorineural Deafness and Renal Disease) Accompanied by Hirschsprung Disease. 61
23056694 2010
18
Sonographic findings in a case of tetrasomy 9p associated with increased nuchal translucency and Dandy-Walker malformation. 61
19655321 2009
19
Rhombencephalosynapsis in a severely polymalformed fetus with non-mosaic tetrasomy 9p, in intracytoplasmic-sperm-injection pregnancy. 61
18953648 2008
20
Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p. 61
18627039 2008
21
Prenatal diagnosis of nonmosaic tetrasomy 9p by microdissection and FISH: case report. 61
17697586 2007
22
Prenatal diagnosis of low-level mosaic tetrasomy 9p by amniocentesis. 61
17393556 2007
23
Mosaic tetrasomy 9p case with the phenotype mimicking Klinefelter syndrome and hyporesponse of gonadotropin-stimulated testosterone production. 61
17932453 2007
24
Congenital diaphragmatic hernia in a patient with tetrasomy 9p. 61
16226972 2005
25
Tetrasomy 9q in an infant with cleft palate and multiple anomalies. 61
15930905 2005
26
Tetrasomy 9p mosaicism associated with a normal phenotype. 61
15824502 2005
27
Prenatal diagnosis of tetrasomy 9p in a 19-week-old fetus with Dandy-Walker malformation: a case report. 61
15503289 2004
28
Prenatal diagnosis of tetrasomy 9p with Dandy-Walker malformation. 61
15305350 2004
29
Prenatal diagnosis of tetrasomy 9p. 61
15054852 2004
30
Two cases of tetrasomy 9p syndrome with tissue limited mosaicism. 61
14735590 2004
31
New case of non-mosaic tetrasomy 9p in a severely polymalformed newborn girl. 61
14745919 2003
32
Dandy-Walker malformation in an infant with tetrasomy 9p. 61
12689705 2003
33
Three cases of tetrasomy 9p. 61
12457411 2002
34
4p- syndrome and 9p tetrasomy mosaicism with cleft lip and palate. 61
10964553 2000
35
Tetrasomy 9p due to an intrachromosomal triplication of 9p13-p22. 61
10449655 1999
36
Mosaic tetrasomy 9p in a girl with multiple congenital anomalies: cytogenetic and molecular-cytogenetic studies. 61
10412817 1999
37
Isochromosomes 12p and 9p: parental origin and possible mechanisms of formation. 61
9781058 1998
38
New case of mosaic tetrasomy 9p with additional neurometabolic findings. 61
9489799 1998
39
Trisomy 9p and tetrasomy 9p: a unique, clinically recognisable syndrome. 61
9777347 1998
40
Moving towards a syndrome: a review of 20 cases and a new case of non-mosaic tetrasomy 9p with long-term survival. 61
9272709 1997
41
Non-mosaic tetrasomy 9p in a liveborn infant with multiple congenital anomalies: case report and comparison with trisomy 9p. 61
8737648 1996
42
Tetrasomy 9p syndrome. 61
7625761 1995
43
A case of tetrasomy 9p. 61
7532895 1994
44
Tetrasomy 9p: prenatal diagnosis and fetopathological findings in a second trimester male fetus. 61
7847795 1994
45
Tetrasomy 9p: tissue-limited idic(9p) in a child with mild manifestations and a normal CVS result. Report and review. 61
7506483 1993
46
A patient with tetrasomy 9p, Dandy-Walker cyst and Hirschsprung disease. 61
1524413 1992
47
Tetrasomy of the short arm of chromosome 9: prenatal diagnosis and further delineation of the phenotype. 61
2063906 1991
48
Tetrasomy 9p: an emerging syndrome. 61
1997218 1991
49
Tissue limited mosaicism in a patient with tetrasomy 9p. 61
2260570 1990
50
Prenatal diagnosis of a case of tetrasomy 9p. 61
2616538 1989

Variations for Tetrasomy 9p

Expression for Tetrasomy 9p

Search GEO for disease gene expression data for Tetrasomy 9p.

Pathways for Tetrasomy 9p

GO Terms for Tetrasomy 9p

Sources for Tetrasomy 9p

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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