MCID: CHR182
MIFTS: 19

Chromosome 10p Duplication

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Chromosome 10p Duplication

MalaCards integrated aliases for Chromosome 10p Duplication:

Name: Chromosome 10p Duplication 52
Trisomy 10p 52 58 29
Chromosome 10, Trisomy 10p 71
Partial Trisomy 10p 52
10p Duplication 52
Duplication 10p 52
10p Trisomy 52

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q92.2
UMLS via Orphanet 72 C0795837
Orphanet 58 ORPHA171929
UMLS 71 C0795837

Summaries for Chromosome 10p Duplication

NIH Rare Diseases : 52 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 hypotonia and chromosomal triplication. Affiliated tissues include heart and testes.

Related Diseases for Chromosome 10p Duplication

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

(show all 46)
# Related Disease Score Top Affiliating Genes
1 hypotonia 10.4
2 chromosomal triplication 10.3
3 clubfoot 10.1
4 47,xyy 10.1
5 chromosome 20p deletion 10.1
6 dwarfism 10.1
7 partial duplication of chromosome x 10.1
8 gastroesophageal reflux 10.0
9 cleft palate, isolated 10.0
10 cri-du-chat syndrome 10.0
11 kabuki syndrome 1 10.0
12 hemifacial microsomia 10.0
13 strabismus 10.0
14 wolf-hirschhorn syndrome 10.0
15 alopecia universalis congenita 10.0
16 celiac disease 1 10.0
17 hypoadrenocorticism, familial 10.0
18 retinitis pigmentosa 11 10.0
19 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
20 alacrima, achalasia, and mental retardation syndrome 10.0
21 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
22 autoimmune polyendocrine syndrome type 1 10.0
23 immunoglobulin alpha deficiency 10.0
24 scoliosis 10.0
25 umbilical hernia 10.0
26 hereditary mixed polyposis syndrome 10.0
27 microcephaly 10.0
28 autoimmune polyendocrine syndrome 10.0
29 gonadal dysgenesis 10.0
30 inner ear disease 10.0
31 turner syndrome 10.0
32 thyroiditis 10.0
33 mechanical strabismus 10.0
34 alopecia 10.0
35 autoimmune inner ear disease 10.0
36 chromosome 10p deletion 10.0
37 chromosome 2q deletion 10.0
38 chromosome 4p deletion 10.0
39 chromosome 9p duplication 10.0
40 hypertonia 10.0
41 complex chromosomal rearrangement 10.0
42 pseudohermaphroditism 10.0
43 cleft lip 10.0
44 cleft lip/palate 10.0
45 ring chromosome 10.0
46 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 10.0

Graphical network of the top 20 diseases related to Chromosome 10p Duplication:



Diseases related to Chromosome 10p Duplication

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

Genetic tests related to Chromosome 10p Duplication:

# Genetic test Affiliating Genes
1 Trisomy 10p 29

Anatomical Context for Chromosome 10p Duplication

MalaCards organs/tissues related to Chromosome 10p Duplication:

40
Heart, Testes

Publications for Chromosome 10p Duplication

Articles related to Chromosome 10p Duplication:

(show top 50) (show all 53)
# Title Authors PMID Year
1
Multiorgan autoimmunity in a Turner syndrome patient with partial monosomy 2q and trisomy 10p. 61
23262341 2013
2
Complete trisomy 10p resulting from an extra stable telocentric chromosome. 61
22628287 2012
3
Subtelomeric 6.7 Mb trisomy 10p and 5.6 Mb monosomy 21q detected by FISH and array-CGH in three related patients. 61
22407767 2012
4
Small supernumerary marker chromosome originating from chromosome 10 associated with an apparently normal phenotype. 61
19921638 2009
5
Kabuki syndrome and trisomy 10p. 61
18990985 2008
6
Trisomy 10p and translocation of 10q to 4p associated with selective dysgenesis of IgA-producing cells in lymphoid tissue. 61
17199741 2007
7
A de novo subterminal trisomy 10p and monosomy 18q in a girl with MCA/MR: case report and review. 61
16488200 2006
8
Trisomy 10p with clinical features of facio-auriculo-vertebral spectrum: a case report. 61
16317303 2006
9
Prenatal detection of a pure trisomy 10p case. 61
12673647 2003
10
A fetus with trisomy 9p and trisomy 10p originating from unbalanced segregation of a maternal complex chromosome rearrangement t(4;10;9). 61
12065954 2002
11
Chromosome 10p11.2-p12.2 duplication: report of a patient and review of the literature. 61
11754045 2001
12
Pure trisomy 10p resulting from an extra ring chromosome: characterization by methods of advanced molecular cytogenetics. 61
11503167 2001
13
[Trisomy of the short arm of chromosome 10p; description of a female patient with de novo duplication 10p11.2-15]. 61
10719682 2000
14
Molecular cytogenetics, RFLP analysis and clinical characterization of a de novo trisomy 10p case. 61
10818221 2000
15
Pure trisomy 10p involving an isochromosome 10p. 61
10422809 1999
16
Identification and characterization of a de novo partial trisomy 10p by comparative genomic hybridization (CGH). 61
9831346 1998
17
Partial trisomy 10 mosaicism with cutaneous manifestations: report of a case and review of the literature. 61
9007335 1996
18
Trisomy 10p: report of an unusual mechanism of formation and critical evaluation of the clinical phenotype. 61
9240743 1996
19
Family with partial monosomy 10p and trisomy 10p. 61
7625434 1995
20
Ophthalmic findings in partial monosomy 4p (Wolf syndrome) in combination with partial trisomy 10p. 61
8129026 1994
21
Combined 10pter-->p11 and 18pter-->q11 trisomy in a 7-year-old child. 61
1388935 1992
22
[Partial trisomy 10p in combination with partial monosomy 20p--a syndrome with muscular hypotonia, psychomotor retardation, dwarfism and craniofacial dysmorphia]. 61
2214595 1990
23
Trisomy 10p syndrome owing to maternal pericentric inversion. 61
2182876 1990
24
[Oligo-elements of the amniotic fluid from normal, hypotrophic and trisomy 21 fetuses]. 61
2139235 1990
25
Regional localization of the gene coding for sphingolipid activator protein SAP-1 on human chromosome 10. 61
3478817 1987
26
Trisomy 10p, due to an unusual translocation. 61
3981144 1985
27
Duplication of chromosome 10p: confirmation of regional assignments of platelet-type phosphofructokinase. 61
6236690 1984
28
Trisomy for the short arm of chromosome 10. Report of a new case resulting from segregation of a maternal balanced translocation t(10qter----q11::14p11----qter). 61
6543839 1984
29
A de novo case of trisomy 10p: gene dosage studies of hexokinase, inorganic pyrophosphatase and adenosine kinase. 61
6146563 1984
30
Trisomy 10p produced by recombination involving complex paternal translocation between chromosomes 1 and 10. 61
6616946 1983
31
Red blood cell glucose metabolism in trisomy 10p: possible role of hexokinase in the erythrocyte. 61
6831053 1983
32
Two chromosomal syndromes in the same family: monosomy and trisomy for part of the short arm of chromosome 10. 61
7151837 1982
33
Genetic risks for familial reciprocal translocations with special emphasis on those leading to 9p, 10p and 12p trisomies. 61
7103412 1982
34
Trisomy 10p produced by recombination involving maternal inversion inv(10)(pllq26). 61
7253000 1981
35
Evidence of gene dosage effect for HK 1 in the red cells of a patient with trisomy 10pter leads to p13. 61
6971618 1981
36
[Trisomy 10p as a result of familial 10/22 translocation]. 61
7405617 1980
37
[Trisomy 10p due to t(Y;10)(p11; p11) "de novo"]. 61
548875 1979
38
Increased HK1 activity levels in the red cells of a patient with a de novo trisomy 10p: t(Y;10)(p11;p12). 61
468260 1979
39
[46,XX/46,XX,del (10) (p13)/47,XX,+r/47,XX,del (10) (p13), + r mosaicism and partial trisomy 10p phenotype (author's transl)]. 61
316677 1979
40
Trisomy 10p due to a de novo t(10p;13p). 61
422195 1979
41
The dermatoglyphic pattern of the trisomy 10p syndrome. 61
729197 1978
42
Brother and sister with trisomy 10p. 46,XY,(22p+)mat; 46,XX,(22p+)mat. 61
730183 1978
43
Partial trisomy 10p in two generations. 61
640658 1978
44
Trisomy 10p due to t(5;10)(p15;p11) segregating in a large sibship. 61
631856 1978
45
Risk for short arm 10 trisomy. A segregation analysis of eleven families with different translocations. 61
924445 1977
46
New chromosomal dysmorphic syndromes. 2. Trisomy 10p. 61
913435 1977
47
Trisomy for the short arm of chromosome No. 10. 61
591928 1977
48
[Partial trisomy 10p of paternal origin. 2 new cases in 2 different families]. 61
304706 1977
49
Partial trisomy 10p and familial translocation t(7;10)(p22;p12). 61
844878 1977
50
[2 cases of partial trisomy 10p due to a paternal translocation t(10p;18)(p13;q23)]. 61
1086628 1976

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
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17 EFO
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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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