Chromosome 12p Duplication disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: CHR190 MIFTS: 27	Chromosome 12p Duplication Categories: Fetal diseases, Rare diseases
Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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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:

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

Minor partial trisomy

Orphanet: ⁵⁸

Developmental anomalies during embryogenesis

External Ids:

ICD10 via Orphanet ³³ Q92.3

UMLS via Orphanet ⁷² C0795845

Orphanet ⁵⁸ ORPHA1699

UMLS ⁷¹ C0795845

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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

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Related Diseases for Chromosome 12p Duplication

Diseases related to Chromosome 12p Duplication via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)

#	Related Disease	Score
1	epicanthus	10.2
2	hypertelorism	10.1
3	ptosis	10.1
4	monocular esotropia	10.1
5	tricuspid valve insufficiency	10.1
6	cataract	10.1
7	esotropia	10.1
8	chromosome 14q duplication	10.1
9	ring chromosome	10.1
10	cerebral visual impairment	10.1
11	cri-du-chat syndrome	10.0
12	macroglossia	10.0
13	pectus excavatum	10.0
14	down syndrome	10.0
15	wolf-hirschhorn syndrome	10.0
16	acrocallosal syndrome	10.0
17	polydactyly	10.0
18	epilepsy	10.0
19	pathologic nystagmus	10.0
20	47,xyy	10.0
21	chromosome 10p duplication	10.0
22	chromosome 4p deletion	10.0
23	chromosome 4p duplication	10.0
24	chromosome 9p duplication	10.0
25	febrile seizures	10.0
26	seizure disorder	10.0
27	isolated oxycephaly	10.0
28	argyria	10.0
29	rare chromosomal anomaly	10.0
30	epilepsy with myoclonic absences	10.0
31	diaphragmatic hernia, congenital	10.0
32	pallister-killian syndrome	10.0
33	alacrima, achalasia, and mental retardation syndrome	10.0
34	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.0
35	alternating exotropia	10.0
36	exotropia	10.0
37	alopecia	10.0
38	chromosomal triplication	10.0
39	hypotonia	10.0

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

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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%)

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Drugs & Therapeutics for Chromosome 12p Duplication

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

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Genetic Tests for Chromosome 12p Duplication

Genetic tests related to Chromosome 12p Duplication:

#	Genetic test	Affiliating Genes
1	Trisomy 12p ²⁹

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Anatomical Context for Chromosome 12p Duplication

MalaCards organs/tissues related to Chromosome 12p Duplication:

⁴⁰

Heart, Skin, Eye

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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	Rawool A...Phadke SR	32482921	2020
2	Pallister-Killian Mosaic Syndrome in an Omani Newborn: A Case Report and Literature Review. ⁶¹	Elsheikh A...Al Harasi S	31110634	2019
3	Trisomy of the Short Arm of Chromosome 12 Associated with High Cardiovascular Risk: A Case Report. ⁶¹	Fulcheri C...Veglio F	30806948	2019
4	Genotype/phenotype correlation in a female patient with 21q22.3 and 12p13.33 duplications. ⁶¹	Mekkawy MK...Zaki MS	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	Bose D...Kutty AV	25896599	2015
6	Report on 3 patients with 12p duplication including GRIN2B. ⁶¹	Poirsier C...Doco-Fenzy M	24503147	2014
7	De novo trisomy 12p in twin girls with different levels of mosaicism. ⁶¹	Lim EC...Tan EC	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	Izumi K...Krantz ID	23169682	2012
9	A new partial trisomy 12p with artery catheter vagus, congenital cataracts, external auditory canal, and no turbinate. ⁶¹	Liu YH...Xiong F	22959136	2012
10	Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes. ⁶¹	Pauli S...Bartels I	22677035	2012
11	Prenatal diagnosis of a fetus with a de novo trisomy 12p by array-comparative genomic hybridization (array-CGH). ⁶¹	Hung CC...Su YN	22248625	2012
12	Pure and complete 12p trisomy due to a maternal centric fission of chromosome 12. ⁶¹	Cetin Z...Luleci G	21271652	2011
13	Trisomy 12p syndrome secondary to a balanced familial translocation. ⁶¹	Zen PR...Paskulin GA	20723113	2010
14	Phenotypic overlapping of trisomy 12p and Pallister-Killian syndrome. ⁶¹	Inage E...Yamamoto T	20219705	2010
15	Trisomy 12p and monosomy 4p: phenotype-genotype correlation. ⁶¹	Benussi DG...Pecile V	19378504	2009
16	The Pallister-Killian syndrome in a child with rare karyotype--a diagnostic problem. ⁶¹	Smigiel R...Sasiadek MM	18000682	2008
17	Subtelomeric analysis detects a familial 10p;12p rearrangement in two relatives with a distinct syndrome. ⁶¹	Battaglia A...Carey JC	17163546	2007
18	Moyamoya syndrome in a child with trisomy 12p syndrome. ⁶¹	Kim YO...Chung TW	17138018	2006
19	Intrachromosomal triplication 12p11.22-p12.3 and gonadal mosaicism of partial tetrasomy 12p. ⁶¹	Eckel H...Wieacker P	16652358	2006
20	The natural history of trisomy 12p. ⁶¹	Segel R...Bianchi DW	16502429	2006
21	Monosomy 5p and trisomy 12p in a boy with familial balanced translocation. ⁶¹	Vasudevan PC...Parker MJ	16531734	2006
22	Genotype/phenotype analysis in a patient with pure and complete trisomy 12p. ⁶¹	Zumkeller W...Stumm M	15326625	2004
23	Epilepsy and electroencephalographic findings in pericentric inversion of chromosome 12. ⁶¹	Grosso S...Balestri P	15605470	2004
24	Clinical and molecular cytogenetic studies in a case with partial trisomy 12p due to a de novo supernumerary ring chromosome. ⁶¹	Ausems MG...De Pater JM	15658615	2004
25	Clinical, cytogenetic, and molecular observations in a patient with Pallister-Killian-syndrome with an unusual karyotype. ⁶¹	Leube B...Royer-Pokora B	14608653	2003
26	De novo inverted tandem duplication of the short arm of chromosome 12 in a patient with microblepharon. ⁶¹	Tekin M...Pandya A	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	Fritz B...Fonatsch C	11038438	2000
28	Myoclonic absence-like seizures and chromosome abnormality syndromes. ⁶¹	Elia M...Aguglia U	9637609	1998
29	Trisomy 12p and epilepsy with myoclonic absences. ⁶¹	Elia M...Cammarata M	9545186	1998
30	Trisomy (12p) with telocentric and pseudoisodicentric chromosome formation in a fetus. ⁶¹	Plaja A...Sarret E	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	Chen CP...Lin SP	9249870	1997
32	A rare case of a liveborn with free, de novo and partial trisomy 12 and an unusual phenotype. ⁶¹	el-Shanti H...Patil S	9401108	1997
33	Clinical and molecular cytogenetic observations in three cases of "trisomy 12p syndrome". ⁶¹	Rauch A...Pfeiffer RA	8723117	1996
34	Cytogenetic and molecular analysis in trisomy 12p. ⁶¹	Allen TL...Chance PF	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	Los FJ...in 't Veld PA	8750296	1995
36	Patient with de novo 12p+ syndrome identified as dir dup (12) (p13) using subchromosomal painting libraries from somatic cell hybrids. ⁶¹	Zelante L...Rocchi M	7889648	1994
37	Trisomy 12p syndrome: a chromosomal disorder associated with generalized 3-Hz spike and wave discharges. ⁶¹	Guerrini R...Roger J	2401247	1990
38	Trisomy 12p mosaicism syndrome. ⁶¹	Karki CB...Walters RM	2139132	1990
39	A case of de novo trisomy 12p syndrome. ⁶¹	Tayel S...Sharaf EA	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	Steinbach P...Rehder H	3476222	1987
41	A case of de novo trisomy 12p syndrome. ⁶¹	Ray M...Seargeant L	3879436	1985
42	[Trisomy 12(pter----q12) and monosomy 21(pter----q21). A propos of a case]. ⁶¹	Arnaud M...Rochiccioli P	6527133	1984
43	Genetic risks for familial reciprocal translocations with special emphasis on those leading to 9p, 10p and 12p trisomies. ⁶¹	Stene J...Stengel-Rutkowski S	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	Ottolina de Bracamonte N...Hammond Figueroa FG	7186725	1982
45	New chromosomal dysmorphic syndromes. 4. Trisomy 12p. ⁶¹	Stengel-Rutkowski S...Stene J	7262097	1981
46	Trisomy-12p syndrome: Family study and prenatal diagnosis. ⁶¹	Grace HJ...Boughton K	7404198	1980
47	Identification of the origin of a 22p+ chromosome by triplex dosage effect of LDH B, GAPHD, TPI and ENO2. ⁶¹	Dallapiccola B...Dacha M	6967283	1980
48	Ocular findings in cytogenetic syndromes. ⁶¹	Wilson WA...Donnell GN	160518	1979
49	[Report of a further case of trisomy 12p]. ⁶¹	Giorgi PL...Fiori B	548876	1979
50	Two cases of trisomy 12p due to rcpt (12;21)(p11;p11) inherited through three generations. ⁶¹	Parslow M...Hunter W	457115	1979

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Genes for Chromosome 12p Duplication

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Variations for Chromosome 12p Duplication

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Expression for Chromosome 12p Duplication

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

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Pathways for Chromosome 12p Duplication

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GO Terms for Chromosome 12p Duplication

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