MCID: CHR190
MIFTS: 27

Chromosome 12p Duplication

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Chromosome 12p Duplication

MalaCards integrated aliases for Chromosome 12p Duplication:

Name: Chromosome 12p Duplication 52
Trisomy 12p 52 58 29
Duplication 12p 52 58
Chromosome 12, 12p Trisomy 71
Partial Trisomy 12p 52
12p Duplication 52
12p Trisomy 52

Characteristics:

Orphanet epidemiological data:

58
trisomy 12p
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Chromosome 12p Duplication

NIH Rare Diseases : 52 Chromosome 12p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 12 . The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 12p duplication include macrocephaly (unusually large head), abnormal muscle tone, characteristic facial features, developmental delay and intellectual disability . Most cases are not inherited , but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Chromosome 12p Duplication, also known as trisomy 12p, is related to epicanthus and hypertelorism. Affiliated tissues include heart, skin and eye, and related phenotypes are intellectual disability and global developmental delay

Related Diseases for Chromosome 12p Duplication

Graphical network of the top 20 diseases related to Chromosome 12p Duplication:



Diseases related to Chromosome 12p Duplication

Symptoms & Phenotypes for Chromosome 12p Duplication

Human phenotypes related to Chromosome 12p Duplication:

58 31 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
4 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
5 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
6 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
7 thick eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0000574
8 full cheeks 58 31 hallmark (90%) Very frequent (99-80%) HP:0000293
9 everted lower lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000232
10 flat face 58 31 hallmark (90%) Very frequent (99-80%) HP:0012368
11 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
12 thickened nuchal skin fold 58 31 hallmark (90%) Very frequent (99-80%) HP:0000474
13 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
14 downturned corners of mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0002714
15 clinodactyly of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004209
16 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
17 turricephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000262
18 large hands 58 31 hallmark (90%) Very frequent (99-80%) HP:0001176
19 abnormality of the antihelix 58 31 hallmark (90%) Very frequent (99-80%) HP:0009738
20 abnormality of chromosome segregation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002916
21 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
22 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
23 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
24 proptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000520
25 abnormality of cardiovascular system morphology 31 frequent (33%) HP:0030680
26 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
27 anal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002023
28 aplasia/hypoplasia of the iris 58 31 occasional (7.5%) Occasional (29-5%) HP:0008053
29 abnormality of the urinary system 58 31 occasional (7.5%) Occasional (29-5%) HP:0000079
30 supernumerary nipple 58 31 occasional (7.5%) Occasional (29-5%) HP:0002558
31 malformation of the heart and great vessels 58 Frequent (79-30%)
32 aplasia/hypoplasia affecting the eye 58 Occasional (29-5%)

Drugs & Therapeutics for Chromosome 12p Duplication

Search Clinical Trials , NIH Clinical Center for Chromosome 12p Duplication

Genetic Tests for Chromosome 12p Duplication

Genetic tests related to Chromosome 12p Duplication:

# Genetic test Affiliating Genes
1 Trisomy 12p 29

Anatomical Context for Chromosome 12p Duplication

MalaCards organs/tissues related to Chromosome 12p Duplication:

40
Heart, Skin, Eye

Publications for Chromosome 12p Duplication

Articles related to Chromosome 12p Duplication:

(show top 50) (show all 59)
# Title Authors PMID Year
1
Hypotonic infant with Pallister-Killian syndrome diagnosed by cytogenetic microarray, without pigmentary skin changes and malformations. 61
32482921 2020
2
Pallister-Killian Mosaic Syndrome in an Omani Newborn: A Case Report and Literature Review. 61
31110634 2019
3
Trisomy of the Short Arm of Chromosome 12 Associated with High Cardiovascular Risk: A Case Report. 61
30806948 2019
4
Genotype/phenotype correlation in a female patient with 21q22.3 and 12p13.33 duplications. 61
26749249 2016
5
Molecular Delineation of Partial Trisomy 14q and Partial Trisomy 12p in a Patient with Dysmorphic Features, Heart Defect and Developmental Delay. 61
25896599 2015
6
Report on 3 patients with 12p duplication including GRIN2B. 61
24503147 2014
7
De novo trisomy 12p in twin girls with different levels of mosaicism. 61
23686734 2013
8
Duplication 12p and Pallister-Killian syndrome: a case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region. 61
23169682 2012
9
A new partial trisomy 12p with artery catheter vagus, congenital cataracts, external auditory canal, and no turbinate. 61
22959136 2012
10
Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes. 61
22677035 2012
11
Prenatal diagnosis of a fetus with a de novo trisomy 12p by array-comparative genomic hybridization (array-CGH). 61
22248625 2012
12
Pure and complete 12p trisomy due to a maternal centric fission of chromosome 12. 61
21271652 2011
13
Trisomy 12p syndrome secondary to a balanced familial translocation. 61
20723113 2010
14
Phenotypic overlapping of trisomy 12p and Pallister-Killian syndrome. 61
20219705 2010
15
Trisomy 12p and monosomy 4p: phenotype-genotype correlation. 61
19378504 2009
16
The Pallister-Killian syndrome in a child with rare karyotype--a diagnostic problem. 61
18000682 2008
17
Subtelomeric analysis detects a familial 10p;12p rearrangement in two relatives with a distinct syndrome. 61
17163546 2007
18
Moyamoya syndrome in a child with trisomy 12p syndrome. 61
17138018 2006
19
Intrachromosomal triplication 12p11.22-p12.3 and gonadal mosaicism of partial tetrasomy 12p. 61
16652358 2006
20
The natural history of trisomy 12p. 61
16502429 2006
21
Monosomy 5p and trisomy 12p in a boy with familial balanced translocation. 61
16531734 2006
22
Genotype/phenotype analysis in a patient with pure and complete trisomy 12p. 61
15326625 2004
23
Epilepsy and electroencephalographic findings in pericentric inversion of chromosome 12. 61
15605470 2004
24
Clinical and molecular cytogenetic studies in a case with partial trisomy 12p due to a de novo supernumerary ring chromosome. 61
15658615 2004
25
Clinical, cytogenetic, and molecular observations in a patient with Pallister-Killian-syndrome with an unusual karyotype. 61
14608653 2003
26
De novo inverted tandem duplication of the short arm of chromosome 12 in a patient with microblepharon. 61
11746026 2001
27
Familial cryptic translocation with del 4q34-->qter and dup 12pter-->p13 in sibs with tracheal stenosis: clinical, classical and molecular cytogenetic studies and CGH analyses from archival placental tissues evidencing tertiary trisomy 4 in one abortion specimen. 61
11038438 2000
28
Myoclonic absence-like seizures and chromosome abnormality syndromes. 61
9637609 1998
29
Trisomy 12p and epilepsy with myoclonic absences. 61
9545186 1998
30
Trisomy (12p) with telocentric and pseudoisodicentric chromosome formation in a fetus. 61
9599652 1998
31
Prenatal diagnosis of partial trisomy 12 and partial trisomy 21 due to a 3:1 segregation of maternal reciprocal translocation t(12;21) (p13.3;q21). 61
9249870 1997
32
A rare case of a liveborn with free, de novo and partial trisomy 12 and an unusual phenotype. 61
9401108 1997
33
Clinical and molecular cytogenetic observations in three cases of "trisomy 12p syndrome". 61
8723117 1996
34
Cytogenetic and molecular analysis in trisomy 12p. 61
8723118 1996
35
Prenatal diagnosis of mosaic tetrasomy 12p/trisomy 12p by fluorescent in situ hybridization in amniotic fluid cells: a case report of Pallister-Killian syndrome. 61
8750296 1995
36
Patient with de novo 12p+ syndrome identified as dir dup (12) (p13) using subchromosomal painting libraries from somatic cell hybrids. 61
7889648 1994
37
Trisomy 12p syndrome: a chromosomal disorder associated with generalized 3-Hz spike and wave discharges. 61
2401247 1990
38
Trisomy 12p mosaicism syndrome. 61
2139132 1990
39
A case of de novo trisomy 12p syndrome. 61
2758689 1989
40
Tetrasomy for the short arm of chromosome 12 with accessory isochromosome (+i(12p)) and a marked LDH-B gene dosage effect. 61
3476222 1987
41
A case of de novo trisomy 12p syndrome. 61
3879436 1985
42
[Trisomy 12(pter----q12) and monosomy 21(pter----q21). A propos of a case]. 61
6527133 1984
43
Genetic risks for familial reciprocal translocations with special emphasis on those leading to 9p, 10p and 12p trisomies. 61
7103412 1982
44
Partial trisomy 12p. A newborn child with karyotype 46,XY,der(11), t(11; 12) (q25; p11) mat. Case report and review. 61
7186725 1982
45
New chromosomal dysmorphic syndromes. 4. Trisomy 12p. 61
7262097 1981
46
Trisomy-12p syndrome: Family study and prenatal diagnosis. 61
7404198 1980
47
Identification of the origin of a 22p+ chromosome by triplex dosage effect of LDH B, GAPHD, TPI and ENO2. 61
6967283 1980
48
Ocular findings in cytogenetic syndromes. 61
160518 1979
49
[Report of a further case of trisomy 12p]. 61
548876 1979
50
Two cases of trisomy 12p due to rcpt (12;21)(p11;p11) inherited through three generations. 61
457115 1979

Variations for Chromosome 12p Duplication

Expression for Chromosome 12p Duplication

Search GEO for disease gene expression data for Chromosome 12p Duplication.

Pathways for Chromosome 12p Duplication

GO Terms for Chromosome 12p Duplication

Sources for Chromosome 12p Duplication

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
Content
Loading form....