MCID: CHR274
MIFTS: 13

Chromosome Xq Duplication

Categories: Rare diseases

Aliases & Classifications for Chromosome Xq Duplication

MalaCards integrated aliases for Chromosome Xq Duplication:

Name: Chromosome Xq Duplication 52
X Chromosome, Trisomy Xq 71
Partial Trisomy Xq 52
Duplication Xq 52
Xq Duplication 52
Trisomy Xq 52
Xq Trisomy 52

Classifications:



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UMLS 71 C2931305

Summaries for Chromosome Xq Duplication

NIH Rare Diseases : 52 Chromosome Xq duplication is a chromosome abnormality that affects many different parts of the body. People with this condition have an extra copy of the genetic material located on the long arm (q) of the X chromosome in each cell . The severity of the condition and the associated signs and symptoms vary based on the size and location of the duplication; the genes involved; and the sex of the affected person. In general, males are typically more severely affected than females and often experience intellectual disability , developmental delay , short stature , abnormalities of the reproductive organs , and distinctive craniofacial features. Many females with this duplication do not have any symptoms or are only affected with short stature; however, some may be just as severely affected as males with the condition. Most cases are inherited in an X-linked manner, often from a mother with no signs or symptoms of the condition. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Chromosome Xq Duplication, also known as x chromosome, trisomy xq, is related to lubs x-linked mental retardation syndrome and hypotonia. Affiliated tissues include brain.

Related Diseases for Chromosome Xq Duplication

Diseases related to Chromosome Xq Duplication via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 lubs x-linked mental retardation syndrome 11.5
2 hypotonia 10.1
3 chromosomal triplication 10.1
4 infant gynecomastia 10.0
5 gynecomastia 10.0
6 infertility 10.0
7 47,xyy 10.0
8 prader-willi syndrome 10.0
9 autism x-linked 2 10.0
10 scoliosis 10.0
11 microcephaly 10.0
12 leukemia 10.0
13 amenorrhea 10.0
14 gonadal dysgenesis 10.0
15 hypogonadism 10.0
16 learning disability 10.0
17 ring chromosome 10.0

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



Diseases related to Chromosome Xq Duplication

Symptoms & Phenotypes for Chromosome Xq Duplication

Drugs & Therapeutics for Chromosome Xq Duplication

Search Clinical Trials , NIH Clinical Center for Chromosome Xq Duplication

Genetic Tests for Chromosome Xq Duplication

Anatomical Context for Chromosome Xq Duplication

MalaCards organs/tissues related to Chromosome Xq Duplication:

40
Brain

Publications for Chromosome Xq Duplication

Articles related to Chromosome Xq Duplication:

(show all 26)
# Title Authors PMID Year
1
Distal Xq duplication and functional Xq disomy. 61 52
19232094 2009
2
Xq chromosome duplication in males: clinical, cytogenetic and array CGH characterization of a new case and review. 61 52
15887264 2005
3
Growth retardation, developmental delay and dysmorphic features in a girl with a partial duplication of Xq. 52
21326093 2011
4
De novo dup(X)(q22.3q26) in a girl with evidence that functional disomy of X material is the cause of her abnormal phenotype. 52
12476455 2003
5
A novel de novo partial xq duplication in a girl with short stature, nonverbal learning disability and diminished ovarian reserve - effect of growth hormone treatment and fertility preservation strategies: a case report and up-to-date review. 61
31938033 2020
6
A Girl with 10 Mb Distal Xp Deletion Arising from Maternal Pericentric Inversion: Clinical Data and Molecular Characterization. 61
29606911 2018
7
Genomic studies of multiple myeloma reveal an association between X chromosome alterations and genomic profile complexity. 61
27454822 2017
8
Data on affected cancer-related genes in pediatric t(12;21)-positive acute lymphoblastic leukemia patients harboring unbalanced der(6)t(X;6) translocations. 61
27508240 2016
9
Oligo-based aCGH analysis reveals cryptic unbalanced der(6)t(X;6) in pediatric t(12;21)-positive acute lymphoblastic leukemia. 61
27215399 2016
10
A Rare Variant of Turner Syndrome in Four Sequential Generations: Effect of the Interplay of Growth Hormone Treatment and Estrogens on Body Proportion. 61
27459301 2016
11
Microduplication of 15q13.3 and Xq21.31 in a family with Tourette syndrome and comorbidities. 61
23894120 2013
12
Cryptic x; autosome translocation in a boy--delineation of the phenotype. 61
21310340 2011
13
De-novo 2.15 Mb terminal Xq duplication involving MECP2 but not L1CAM gene in a male patient with mental retardation. 61
19090026 2009
14
Combined high-resolution array-based comparative genomic hybridization and expression profiling of ETV6/RUNX1-positive acute lymphoblastic leukemias reveal a high incidence of cryptic Xq duplications and identify several putative target genes within the commonly gained region. 61
17690704 2007
15
De novo interstitial direct duplication of Xq21.1q25 associated with skewed X-inactivation pattern. 61
15526291 2004
16
Inherited tandem duplication of the X chromosome: dup(X)(q13.2-q21.2) in a family. 61
15605909 2004
17
De novo dup(X)(q22.1q25) in a girl with an abnormal phenotype. 61
10588834 1999
18
Primary amenorrhea with Xq duplication. 61
10798023 1999
19
De novo duplication xq22-q23 in a girl with short stature and gonadal dysgenesis. 61
10214506 1999
20
Prader-Willi-like syndrome in a patient with an Xq23q25 duplication. 61
9843044 1998
21
Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(X) (pter-->q24::q21.32-->qter) and random X inactivation. 61
9332664 1997
22
A new syndrome with mental retardation, short stature and an Xq duplication. 61
3177451 1988
23
Inherited Xq duplication due to a zygotic translocation t(X;X)(q23;q27). 61
3261146 1988
24
Inherited X-chromosome inverted tandem duplication in a male traced to a grandparental mitotic error. 61
3459356 1986
25
Partial Turner's syndrome in four girls with Xq duplication and Xp deficiency. 61
7129418 1982
26
A duplication-deficiency X chromosome in a girl with severe mental retardation. 61
7390498 1980

Variations for Chromosome Xq Duplication

Expression for Chromosome Xq Duplication

Search GEO for disease gene expression data for Chromosome Xq Duplication.

Pathways for Chromosome Xq Duplication

GO Terms for Chromosome Xq Duplication

Sources for Chromosome Xq Duplication

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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