MCID: CHR250
MIFTS: 16

Chromosome 4q Duplication

Categories: Rare diseases

Aliases & Classifications for Chromosome 4q Duplication

MalaCards integrated aliases for Chromosome 4q Duplication:

Name: Chromosome 4q Duplication 53
Chromosome 4, Trisomy 4q 72
Partial Trisomy 4q 53
4q Duplication 53
Duplication 4q 53
4q Trisomy 53
Trisomy 4q 53

Classifications:



External Ids:

UMLS 72 C0795812

Summaries for Chromosome 4q Duplication

NIH Rare Diseases : 53 Chromosome 4q duplication is a chromosome abnormality characterized by an extra copy (duplication) of genetic material on the long arm (q) of chromosome 4. The severity and specific symptoms depend on the size and location of the duplication, and which genes are involved. Features that have been described in some people with chromosome 4q duplication include developmental delay, intellectual disability, behavioral problems, birth defects, and distinctive facial features. Most cases are inherited from an unaffected parent with a chromosomal rearrangement called a balanced translocation. Some cases are not inherited and occur sporadically. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Chromosome 4q Duplication, also known as chromosome 4, trisomy 4q, is related to partial trisomy distal 4q and microcephaly. Affiliated tissues include liver and heart.

Related Diseases for Chromosome 4q Duplication

Graphical network of the top 20 diseases related to Chromosome 4q Duplication:



Diseases related to Chromosome 4q Duplication

Symptoms & Phenotypes for Chromosome 4q Duplication

Drugs & Therapeutics for Chromosome 4q Duplication

Search Clinical Trials , NIH Clinical Center for Chromosome 4q Duplication

Genetic Tests for Chromosome 4q Duplication

Anatomical Context for Chromosome 4q Duplication

MalaCards organs/tissues related to Chromosome 4q Duplication:

41
Liver, Heart

Publications for Chromosome 4q Duplication

Articles related to Chromosome 4q Duplication:

(show all 48)
# Title Authors PMID Year
1
Partial trisomy 4q and partial monosomy 9p in a girl with choanal atresia and various dysmorphic findings. 38
25979671 2015
2
CHOANAL ATRESIA AND HIRSCHSPRUNG'S DISEASE ARE "LEGITIMATE" TRAITS OF DISTAL TRISOMY 4q. 38
26852517 2015
3
Partial monosomy 2p and partial trisomy 4q due to paternal translocation t(2;4)(p25.1;q31.3). 38
25145019 2014
4
Case report: partial trisomy 4q27q35 syndrome. 38
25804020 2014
5
De novo partial trisomy distal 4q: a case report. 38
25804022 2014
6
Pure partial trisomy 4q syndrome in a child with der(9)ins(9;4)(q34.3;q26q35.2)mat. 38
24783648 2014
7
[Partial duplication of chromosome 4 in a patient with bilateral ocular coloboma]. 38
22859333 2012
8
A novel maternally-derived insertional translocation resulting in partial trisomy 4q13.2-q22.1 with complex translocation t(8;20) in a family with intellectual disability. 38
22419381 2012
9
Partial trisomy 4q associated with young-onset dopa-responsive parkinsonism. 38
22410449 2012
10
Duplication 4q associated with chronic cholestatic changes in liver biopsy. 38
20826235 2010
11
[Cytogenetic and molecular characterization of partial trisomy 4q and partial monosomy 10q in a patient]. 38
20376795 2010
12
'Pure' partial trisomy 4q26-->q35.2 resulting from a familial unbalanced translocation t(4;10)(q26;q26.3). 38
20145385 2009
13
[Partial duplication of chromosome 4q (q31, q35): Auriculo-acro-renal syndrome]. 38
18394381 2008
14
Recombinant chromosome 4 resulting from a maternal pericentric inversion in two sisters presenting consistent dysmorphic features. 38
17013597 2007
15
Maternal balanced translocation (4;21) leading to an offspring with partial duplication of 4q and 21q without phenotypic manifestations of Down syndrome. 38
17710874 2007
16
Partial trisomy 4q: a case report. 38
16834937 2006
17
Partial trisomy of long arm of chromosome 4 as a result of dir dup (4)(q27q31.3) de novo. 38
16970040 2006
18
Partial trisomy 4q and preaxial limb defects. 38
16158438 2005
19
Large duplication 4q25-q34 with mild clinical effect. 38
15581841 2004
20
De novo interstitial duplication 4(q28.1q35) associated with choanal atresia. 38
15228573 2004
21
Trisomy 4q syndrome: presentation of a new case and review of the literature. 38
12119211 2002
22
Hypoplastic left heart in a female infant with partial trisomy 4q due to de novo 4;21 translocation. 38
11840491 2002
23
Partial trisomy 4q and monosomy 9p resulting from a familial translocation t(4;9)(q27;p24) in a child with choanal atresia. 38
10526659 1999
24
Unbalanced t(4;11)(q32;q23) in a 34-year-old man with manifestations of distal monosomy 11q and trisomy 4q syndromes. 38
9182774 1997
25
Partial trisomy 4q due to a maternal translocation: t(4;18)(q27;q21.31). 38
9101274 1997
26
"Pure" partial trisomy 4q25-qter owing to a de novo 4;22 translocation. 38
8730295 1996
27
Segregation of a paternal insertional translocation results in partial 4q monosomy or 4q trisomy in two siblings. 38
8741910 1996
28
The fetal phenotype of partial trisomy of the long arm of chromosome 4 (4q22----4qter). 38
1801853 1991
29
[Translocation trisomy 4q in 2 siblings as a sequela of paternal balanced reciprocal translocation: t(1;4)(q44;q31)]. 38
2290435 1990
30
Trisomy 4q with morning glory disc anomaly. 38
2377355 1990
31
Trisomy 4q: 46, xy,-11, +der (11), t(4;11) (q27; q25) pat in a child with multiple congenital anomalies. 38
3403028 1988
32
Endocrine abnormalities in a patient with partial trisomy 4q. 38
6387124 1984
33
Familial occurrence of partial trisomy 4q and probable monosomy 5p due to 4q/5p translocation. 38
7180435 1982
34
Partial 4q duplication due to inherited der(13),t(4;13)(q26;q34)mat in a girl with a deficiency of factor X. 38
6985462 1980
35
Partial trisomy 4q resulting from a familial 4/3 translocation. 38
505083 1979
36
Partial trisomy 4q: two cases resulting from a familial translocation t(4;18)(q27;p11). 38
527978 1979
37
Partial trisomy 4q in two unrelated cases. 38
468248 1979
38
Partial trisomy 4q: two cases with a familial translocation t(4;18)(q27;q23). 38
457114 1979
39
Partial trisomy 13 plus partial trisomy 4q due to unusual segregation of translocation chromosomes. 38
761418 1979
40
Partial trisomy 4q. 38
305750 1977
41
[Trisomy 4q26--4qter by t(4;18)(q26;q23)mat translocation]. 38
304703 1977
42
Partial trisomy 4q syndrome: case report and review. 38
964997 1976
43
Partial trisomy 4q due to familial 2/4 translocation. 38
939566 1976
44
A family with a high risk of segregation for an autosomal unbalanced reciprocal translocation. 38
939554 1976
45
Trisomy 4q32 leads to 4qter due to a maternal 4/21 translocation. 38
1219127 1975
46
[Phenotypic variation in partial trisomy 4q (author's transl)]. 38
1150265 1975
47
Partial 4q trisomy. Apropos of 3 cases. 38
238457 1975
48
Partial trisomy 4q and partial monosomy 18q as a consequence of a paternal balanced translocation t(4qminus; 18qplus). 38
4141336 1974

Variations for Chromosome 4q Duplication

Expression for Chromosome 4q Duplication

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Pathways for Chromosome 4q Duplication

GO Terms for Chromosome 4q Duplication

Sources for Chromosome 4q Duplication

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