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 49
Chromosome 10, Trisomy 10p 69 28
Trisomy 10p 49 55
Partial Trisomy 10p 49
10p Duplication 49
Duplication 10p 49
10p Trisomy 49

Classifications:



External Ids:

Orphanet 55 ORPHA171929
UMLS via Orphanet 70 C0795837
ICD10 via Orphanet 33 Q92.2
UMLS 69 C0795837

Summaries for Chromosome 10p Duplication

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 171929Disease definitionTrisomy 10p is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10.EpidemiologyAround 50 cases have been described in the literature.Clinical descriptionIn complete trisomy 10p, the anomalies are present at birth. Children are usually dolichocephalic with a high and prominent forehead, contrasting with a small face, a distinctive implantation of hair that grows backwards, large sutures and a large anterior fontanelle, eyebrows that are fine, arched and that extend to the temples, a large nasal bridge that becomes prominent. The mouth is triangular, with not very apparent fleshy parts, the chin is round, often small and not well defined. The ears are large and low. A third of cases have a cleft lip and/or palate. Osteoarticular anomalies are frequent, including ligament hyperlaxity, flexion deformations of limbs, and club feet. Cardiac, renal (renal cystic dysplasia), ocular (coloboma, microphthalmia) and bone malformations have been reported. Hypochromic anemia is sometimes observed. Development is affected by severe intellectual and motor deficiency, and muscular hypotonia and hypotrophia.EtiologyThe majority of cases are a result of the malsegregation of a familialbalanced translocation. The most frequent break point is located at the level of p11 band, but it can be more distal and result in partial trisomy. Other mechanisms can also be involved (pericentric inversion, duplication de novo, supernumerary chromosome...).Diagnostic methodsThe observation of a developmental anomaly associated with congenital anomalies leads to performing a karyotype which shows total or partial duplication of the short arm of chromosome 10, often associated with another imbalance. The identity of the chromosomal segment can be confirmed using in situ hybridization with probes specific to 10p. The parents' karyotype is essential in order to determine how the disease has occurred.Differential diagnosisDifferential diagnoses include other syndromes of developmental delay with dysmorphism and congenital malformations.Antenatal diagnosisPrenatal diagnosis is possible, after the birth of the first affected child or after warning signs from an ultrasound, by choronic villus sampling (CVS) or amniocentesis in cases of structural anomalies in one of the parents.Genetic counselingIn cases where the anomaly occurred de novo, the risk of recurrence in siblings is weak. When a structural anomaly is present in one of the parents, the risk will be evaluated depending on the type of anomaly.Management and treatmentThere is no specific treatment. Early multidisciplinary management and special education is necessary.PrognosisThe prognosis is severe. A quarter to a third of patients die in the neonatal period. In other cases the progression is marked by severe intellectual and motor deficiency, and muscular hypotonia and hypotrophia. Partial trisomy with a break point at p13 result in similar characteristics but serious malformations are less frequent.Visit the Orphanet disease page for more resources. Last updated: 2/15/2009

MalaCards based summary : Chromosome 10p Duplication, also known as chromosome 10, trisomy 10p, is related to kabuki syndrome 1 and alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity. Affiliated tissues include bone.

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 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.9
3 turner syndrome 9.9
4 chromosome 2q deletion 9.9
5 chromosome 9p duplication 9.9

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 Chromosome 10, Trisomy 10p 28

Anatomical Context for Chromosome 10p Duplication

MalaCards organs/tissues related to Chromosome 10p Duplication:

38
Bone

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
Complete trisomy 10p resulting from an extra stable telocentric chromosome. ( 22628287 )
2012
3
Subtelomeric 6.7a88Mb trisomy 10p and 5.6a88Mb monosomy 21q detected by FISH and array-CGH in three related patients. ( 22407767 )
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
Trisomy 10p with clinical features of facio-auriculo-vertebral spectrum: a case report. ( 16317303 )
2006
7
A de novo subterminal trisomy 10p and monosomy 18q in a girl with MCA/MR: case report and review. ( 16488200 )
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
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10 dbSNP
11 DGIdb
16 ExPASy
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54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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