MCID: CHR182
MIFTS: 18

Chromosome 10p Duplication

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for Chromosome 10p Duplication

MalaCards integrated aliases for Chromosome 10p Duplication:

Name: Chromosome 10p Duplication 53
Trisomy 10p 53 59
Chromosome 10, Trisomy 10p 73
Partial Trisomy 10p 53
10p Duplication 53
Duplication 10p 53
10p Trisomy 53

Classifications:



External Ids:

Orphanet 59 ORPHA171929
UMLS via Orphanet 74 C0795837
ICD10 via Orphanet 34 Q92.2
UMLS 73 C0795837

Summaries for Chromosome 10p Duplication

NIH Rare Diseases : 53 Chromosome 10p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 10. The severity and the signs and symptoms depend on the size and location of the duplication and which genes are involved. The size of the duplication can range from a tiny piece of the chromosome arm, to the entire arm. Signs and symptoms that can be present in a person with a 10p duplication may include delay of development, motor skills, or growth; short stature; low muscle tone (hypotonia); abnormalities of the foot (such as clubfoot); cleft lip and/or cleft palate; and distinctive facial features. Other signs and symptoms may include seizures, a heart defect, or other birth defects. Some 10p duplications are not inherited and occur sporadically (randomly) when egg or sperm cells form, or shortly after the egg and sperm join together. In other cases, the duplication occurs because a parent has a chromosome rearrangement such as a balanced translocation or a pericentric inversion (neither of which usually causes health problems). A chromosome test of both parents can help determine whether the duplication was inherited, and whether future children have an increased chance to have a chromosome abnormality. Treatment is based on the signs and symptoms present in each person. This page is meant to provide general information about 10p duplications. You can contact GARD if you have questions about a specific duplication on chromosome 10. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders. 

MalaCards based summary : Chromosome 10p Duplication, also known as trisomy 10p, is related to kabuki syndrome 1 and turner syndrome. Affiliated tissues include testes and heart.

Related Diseases for Chromosome 10p Duplication

Diseases related to Chromosome 10p Duplication via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 kabuki syndrome 1 9.9
2 turner syndrome 9.9
3 chromosome 2q deletion 9.9
4 chromosome 9p duplication 9.9

Symptoms & Phenotypes for Chromosome 10p Duplication

Drugs & Therapeutics for Chromosome 10p Duplication

Search Clinical Trials , NIH Clinical Center for Chromosome 10p Duplication

Genetic Tests for Chromosome 10p Duplication

Anatomical Context for Chromosome 10p Duplication

MalaCards organs/tissues related to Chromosome 10p Duplication:

41
Testes, Heart

Publications for Chromosome 10p Duplication

Articles related to Chromosome 10p Duplication:

(show all 20)
# Title Authors Year
1
Multiorgan autoimmunity in a Turner syndrome patient with partial monosomy 2q and trisomy 10p. ( 23262341 )
2013
2
Subtelomeric 6.7a88Mb trisomy 10p and 5.6a88Mb monosomy 21q detected by FISH and array-CGH in three related patients. ( 22407767 )
2012
3
Complete trisomy 10p resulting from an extra stable telocentric chromosome. ( 22628287 )
2012
4
Kabuki syndrome and trisomy 10p. ( 18990985 )
2008
5
Trisomy 10p and translocation of 10q to 4p associated with selective dysgenesis of IgA-producing cells in lymphoid tissue. ( 17199741 )
2007
6
A de novo subterminal trisomy 10p and monosomy 18q in a girl with MCA/MR: case report and review. ( 16488200 )
2006
7
Trisomy 10p with clinical features of facio-auriculo-vertebral spectrum: a case report. ( 16317303 )
2006
8
Prenatal detection of a pure trisomy 10p case. ( 12673647 )
2003
9
A fetus with trisomy 9p and trisomy 10p originating from unbalanced segregation of a maternal complex chromosome rearrangement t(4;10;9). ( 12065954 )
2002
10
Pure trisomy 10p resulting from an extra ring chromosome: characterization by methods of advanced molecular cytogenetics. ( 11503167 )
2001
11
Molecular cytogenetics, RFLP analysis and clinical characterization of a de novo trisomy 10p case. ( 10818221 )
2000
12
Pure trisomy 10p involving an isochromosome 10p. ( 10422809 )
1999
13
Identification and characterization of a de novo partial trisomy 10p by comparative genomic hybridization (CGH). ( 9831346 )
1998
14
Trisomy 10p: report of an unusual mechanism of formation and critical evaluation of the clinical phenotype. ( 9240743 )
1996
15
Family with partial monosomy 10p and trisomy 10p. ( 7625434 )
1995
16
Ophthalmic findings in partial monosomy 4p (Wolf syndrome) in combination with partial trisomy 10p. ( 8129026 )
1994
17
Trisomy 10p syndrome owing to maternal pericentric inversion. ( 2182876 )
1990
18
Trisomy 10p, due to an unusual translocation. ( 3981144 )
1985
19
A de novo case of trisomy 10p: gene dosage studies of hexokinase, inorganic pyrophosphatase and adenosine kinase. ( 6146563 )
1984
20
Trisomy 10p produced by recombination involving complex paternal translocation between chromosomes 1 and 10. ( 6616946 )
1983

Variations for Chromosome 10p Duplication

Expression for Chromosome 10p Duplication

Search GEO for disease gene expression data for Chromosome 10p Duplication.

Pathways for Chromosome 10p Duplication

GO Terms for Chromosome 10p Duplication

Sources for Chromosome 10p Duplication

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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37 KEGG
38 LifeMap
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42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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