MCID: CHR240
MIFTS: 15

Chromosome 2q Duplication

Categories: Rare diseases

Aliases & Classifications for Chromosome 2q Duplication

MalaCards integrated aliases for Chromosome 2q Duplication:

Name: Chromosome 2q Duplication 53
Chromosome 2, Trisomy 2q 72
Partial Trisomy 2q 53
2q Duplication 53
Duplication 2q 53
2q Trisomy 53
Trisomy 2q 53

Classifications:



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UMLS 72 C0795805

Summaries for Chromosome 2q Duplication

NIH Rare Diseases : 53 Chromosome 2q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 2. 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 2q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Chromosome 2q Duplication, also known as chromosome 2, trisomy 2q, is related to distal trisomy 2q and partial duplication of the long arm of chromosome 2. Affiliated tissues include eye.

Related Diseases for Chromosome 2q Duplication

Graphical network of the top 20 diseases related to Chromosome 2q Duplication:



Diseases related to Chromosome 2q Duplication

Symptoms & Phenotypes for Chromosome 2q Duplication

Drugs & Therapeutics for Chromosome 2q Duplication

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Genetic Tests for Chromosome 2q Duplication

Anatomical Context for Chromosome 2q Duplication

MalaCards organs/tissues related to Chromosome 2q Duplication:

41
Eye

Publications for Chromosome 2q Duplication

Articles related to Chromosome 2q Duplication:

(show all 35)
# Title Authors PMID Year
1
Phenotypic and molecular characterization of partial trisomy 2q resulting from insertion-duplication in chromosome 18q: a case report and review of literature. 38
22398442 2012
2
Pure distal trisomy 2q: a rare chromosomal abnormality with recognizable phenotype. 38
19876899 2009
3
High resolution microarray CGH and MLPA analysis for improved genotype/phenotype evaluation of two childhood genetic disorder cases: ring chromosome 19 and partial duplication 2q. 38
16179226 2005
4
Partial trisomy 2q: report of a patient with dup (2)(q33.1q35). 38
15690398 2005
5
Partial trisomy 2q(2q37.3-->qter) and monosomy 7q(7q34--->qter) due to paternal reciprocal translocation 2;7: a case report. 38
12589098 2003
6
Case of partial duplication 2q3 with characteristic phenotype: rare occurrence of an unbalanced offspring resulting from a parental pericentric inversion. 38
10748411 2000
7
Trisomy 2q35-q37 due to insertion of 2q material into 17q25: clinical, cytogenetic, and molecular cytogenetic characterization. 38
10588833 1999
8
Case of partial trisomy 2q3 with clinical manifestations of Marshall-Smith syndrome. 38
10406675 1999
9
Fluorescence in situ hybridization reveals trisomy 2q by insertion into 9p in hepatoblastoma. 38
9546070 1998
10
Prenatal diagnosis of partial trisomy 2q. Case report. 38
9316134 1997
11
Two sibs with partial trisomy 2q. 38
9128937 1997
12
The fetal phenotype of partial 2q trisomy. 38
7617582 1995
13
An approach to work-up of dysmorphic patients: clinical, cytogenetic, and molecular aspects. 38
8089961 1994
14
Gastrointestinal malformation in genetic disorders: a case of partial trisomy 2q with short esophagus and tubular stomach. 38
1804589 1991
15
Trisomy 2 and 20 in two hepatoblastomas. 38
1651104 1991
16
Acrofacial dysostosis with ambiguous genitalia. 38
2260569 1990
17
Trisomy 2q and monosomy 11q in the same individual: the importance of considering the deleted segment. 38
3621640 1987
18
Primary congenital glaucoma in a patient with trisomy 2q (q33----qter) and monosomy 9p(p24----pter). Case report. 38
3827707 1987
19
[Genetics of partial trisomies. I. Trisomy 2q]. 38
3732802 1986
20
Eye findings in partial trisomy 2q. 38
3934618 1985
21
'Pure' partial trisomy 2q in a male owing to malsegregation of a maternal translocation t(X;2)(p22.3;q32.1). 38
3981584 1985
22
Partial trisomy 2q+ as a result of a balanced translocation (1;2)(q43;q33). 38
4065900 1985
23
Probable assignment of soluble isocitrate dehydrogenase (IDH1) to 2q33.3. 38
3861566 1985
24
Delineation of a characteristic phenotype in distal trisomy 2q. 38
6543860 1984
25
Corneal pathology and aniridia associated with partial trisomy 2q, due to a maternal (2;6) translocation. 38
6545387 1984
26
[Partial trisomy of the long arm of chromosome 2 by malsegregation of a maternal translocation t(2;7)(q321;p22)]. 38
6335372 1984
27
Partial trisomy 2q. 38
6851215 1983
28
[Observation of 7 cases of rare autosomal pathology. Trisomy 9p; monosomy 18q; ring 21; trisomy 6p; trisomy 2q 1-21 translocation]. 38
7464734 1980
29
Distal 2q duplication: report of two familial cases and an attempt to define a syndrome. 38
495653 1979
30
Partial trisomy 2q and familial translocation t(2;18)(q31;p11). 38
738724 1978
31
The eye in the partial trisomy 2q syndrome. 38
888894 1977
32
Familial t(X;2) (p223;q323) with partial trisomy 2q and male and female balanced carriers. 38
881200 1977
33
Partial trisomy 2q and familial translocation t(2;12)(q31;q24). 38
1262021 1976
34
Trisomy 2q. 38
1235936 1975
35
[Familial balanced translocation t(2; 13) (q32; q33) and partial trisomy 2q]. 38
4544088 1973

Variations for Chromosome 2q Duplication

Expression for Chromosome 2q Duplication

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Pathways for Chromosome 2q Duplication

GO Terms for Chromosome 2q Duplication

Sources for Chromosome 2q Duplication

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