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 50
Trisomy 10p 50 56
Chromosome 10, Trisomy 10p 69
Partial Trisomy 10p 50
10p Duplication 50
Duplication 10p 50
10p Trisomy 50


External Ids:

Orphanet 56 ORPHA171929
UMLS via Orphanet 70 C0795837
ICD10 via Orphanet 34 Q92.2

Summaries for Chromosome 10p Duplication

NIH Rare Diseases : 50 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 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 trisomy 10p, is related to turner syndrome. 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:

id Related Disease Score Top Affiliating Genes
1 turner syndrome 9.8

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:


Publications for Chromosome 10p Duplication

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

9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
52 Novoseek
55 OMIM via Orphanet
59 PubMed
66 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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