MCID: CHR256
MIFTS: 14

Chromosome 6p Duplication

Categories: Rare diseases

Aliases & Classifications for Chromosome 6p Duplication

MalaCards integrated aliases for Chromosome 6p Duplication:

Name: Chromosome 6p Duplication 52
Chromosome 6, Trisomy 6p 71
Partial Trisomy 6p 52
6p Duplication 52
Duplication 6p 52
6p Trisomy 52
Trisomy 6p 52

Classifications:



External Ids:

UMLS 71 C2931621

Summaries for Chromosome 6p Duplication

NIH Rare Diseases : 52 Chromosome 6p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 6 . 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 6p duplication include developmental delay , intellectual disability , behavioral problems and distinctive facial features. This condition can occur sporadically or be inherited from a parent with the duplication (who is mildy affected) or carries a balanced translocation . Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Chromosome 6p Duplication, also known as chromosome 6, trisomy 6p, is related to distal trisomy 6p and chromosomal triplication.

Related Diseases for Chromosome 6p Duplication

Graphical network of the top 20 diseases related to Chromosome 6p Duplication:



Diseases related to Chromosome 6p Duplication

Symptoms & Phenotypes for Chromosome 6p Duplication

Drugs & Therapeutics for Chromosome 6p Duplication

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Genetic Tests for Chromosome 6p Duplication

Anatomical Context for Chromosome 6p Duplication

Publications for Chromosome 6p Duplication

Articles related to Chromosome 6p Duplication:

(show all 39)
# Title Authors PMID Year
1
Anesthetic management of a patient with chromosome 6p duplication: a case report. 61
28879342 2017
2
[A case of partial 1p36.1 deletion and partial trisomy 6p diagnosed by karyotype]. 61
27262749 2016
3
Prenatal diagnosis and molecular cytogenetic characterization of de novo pure partial trisomy 6p associated with microcephaly, craniosynostosis and abnormal maternal serum biochemistry. 61
24374139 2014
4
Familial trisomy 6p in mother and daughter. 61
23687068 2013
5
Pure de novo partial trisomy 6p in a girl with craniosynostosis. 61
23307468 2013
6
Familial translocation t(6;20)(p21;p13) resulting in partial trisomy 6p and partial monosomy 20p: report of a new case and review of the literature. 61
22433391 2012
7
Immunodeficiency in a child with partial trisomy 6p. 61
21299612 2011
8
Trisomy 6p and ring chromosome 11 in a melanotic schwannoma suggest relation to malignant melanoma rather than conventional schwannoma. 61
21424748 2011
9
Concurrent transposition of distal 6p and 20q to the 22q telomere: a recurrent benign chromosomal variant. 61
18226592 2008
10
A case of de novo partial tetrasomy of distal 6p and review of the literature. 61
17663466 2007
11
Small supernumerary marker chromosome causing partial trisomy 6p in a child with craniosynostosis. 61
17431916 2007
12
Prenatal diagnosis of interstitially satellited 6p. 61
15229841 2004
13
Distal trisomy 6p and 20q owing to the concurrent transposition of distal 6p and 20q to the 22q telomere: a genomic polymorphism? 61
12920086 2003
14
Paternal origin of der(X)t(X;6) in a girl with trisomy 6p and unbalanced t(6;10) mosaicism in her mother. 61
12833412 2003
15
Pure partial trisomy 6p due to a familial insertion (16;6)(p12;p21.2p23). 61
12818529 2003
16
Pure 6p22-pter trisomic patient: refined FISH characterization and genotype-phenotype correlation. 61
11857547 2002
17
Unbalanced 4;6 translocation and progressive renal disease. 61
11102935 2000
18
"Essentially pure" partial trisomy (6)(p23-->pter) in two brothers due to maternal t(6;17)(p23;p13.3). 61
10398266 1999
19
Directly inherited partial trisomy of chromosome 6p identified in a father and daughter by chromosome microdissection. 61
10227406 1999
20
Partial trisomy 6p from a de novo translocation (6;18) with variable mosaicism in different tissues. 61
9298749 1997
21
Partial trisomy 6p due to maternal t(1;6) translocation. 61
8884083 1996
22
Concordance between parental origin of chromosome 13q loss and chromosome 6p duplication in sporadic retinoblastoma. 61
8304344 1994
23
Application of fluorescence in situ hybridization for early prenatal diagnosis of partial trisomy 6p/monosomy 6q due to a familial pericentric inversion. 61
8313624 1993
24
Partial trisomy 6p with agenesis of the corpus callosum and choanal atresia. 61
1552144 1992
25
Livebirth prevalence and follow-up of malformation syndromes in 27,472 newborns. 61
2092586 1990
26
Partial 6p trisomy associated with infantile autism. 61
3378366 1988
27
Trisomy 6p in an ocular melanoma. 61
3355994 1988
28
[Trisomy 6p due to a de-novo t(6;12) translocation]. 61
3377411 1988
29
Partial trisomy 6p and partial trisomy 22 resulting from 3:1 meiotic disjunction of maternal (6p;22q) translocation. 61
3712400 1986
30
Nonrandom chromosomal changes in retinoblastomas. 61
3707294 1986
31
Partial trisomy 6p and partial monosomy 9p from a de novo translocation 46,XY, -9, +DER(9)T(6:9)(p211:p24). 61
4085142 1985
32
Chromosome features of two retinoblastomas. 61
6744228 1984
33
Partial trisomy 6p: 46,XX, -10, der(10),t(6;10) (p22;q26)pat and HLA localisation. 61
7241548 1981
34
[Observation of 7 cases of rare autosomal pathology. Trisomy 9p; monosomy 18q; ring 21; trisomy 6p; trisomy 2q 1-21 translocation]. 61
7464734 1980
35
Hereditary 3;6 translocation : three cases of multiple malformations with partial trisomy 6p21 leads to pter. 61
6968535 1980
36
Trisomy 6p22 leads to 6pter due to familial t(6;13)(p22;q34 or 33) translocation. 61
500094 1979
37
Partial trisomy 6p. 61
110670 1979
38
Partial trisomy 6p with karyotype 46,XY,der(22), t(6;22)(p22;q13)mat. 61
745220 1978
39
Partial trisomy 6p due to familial translocation t(6;20)(p21;p13). A new syndrome? 61
903156 1977

Variations for Chromosome 6p Duplication

Expression for Chromosome 6p Duplication

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Pathways for Chromosome 6p Duplication

GO Terms for Chromosome 6p Duplication

Sources for Chromosome 6p Duplication

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