Chromosome Duplications

Common Name(s)

Chromosome Duplications

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Chromosome Duplications" for support, advocacy or research.

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Chromosome Disorder Outreach, Inc.

Our mission is to provide support to parents of children born with rare chromosome disorders, to gather & disseminate information, & to promote research & a positive community understanding of these disorders.

Last Updated: 2 Nov 2012

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Chromosome Duplications" for support, advocacy or research.

Logo
Chromosome Disorder Outreach, Inc.

Our mission is to provide support to parents of children born with rare chromosome disorders, to gather & disseminate information, & to promote research & a positive community understanding of these disorders.

http://www.chromodisorder.org

Last Updated: 2 Nov 2012

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Chromosome Duplications" returned 27 free, full-text research articles on human participants. First 3 results:

Chimeric transcripts resulting from complex duplications in chromosome Xq28.
 

Author(s): Luciana W Zuccherato, Benjamin Alleva, Marjorie A Whiters, Claudia M B Carvalho, James R Lupski

Journal: Hum. Genet.. 2016 Feb;135(2):253-6.

 

Gene fusions have been observed in somatic alterations in cancer and in schizophrenia. However, the underlying mechanism(s) for their formation are poorly understood. We experimentally demonstrated the expression of splicing variants of in silico predicted chimeric genes F8/CSAG1 ...

Last Updated: 31 Dec 1969

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Microarray Analysis of Copy Number Variants on the Human Y Chromosome Reveals Novel and Frequent Duplications Overrepresented in Specific Haplogroups.
 

Author(s): Martin M Johansson, Anneleen Van Geystelen, Maarten H D Larmuseau, Srdjan Djurovic, Ole A Andreassen, Ingrid Agartz, Elena Jazin

Journal:

 

The human Y chromosome is almost always excluded from genome-wide investigations of copy number variants (CNVs) due to its highly repetitive structure. This chromosome should not be forgotten, not only for its well-known relevance in male fertility, but also for its involvement in ...

Last Updated: 31 Dec 1969

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A recurrent deletion syndrome at chromosome bands 2p11.2-2p12 flanked by segmental duplications at the breakpoints and including REEP1.
 

Author(s): Servi J C Stevens, Eveline W Blom, Ingrid T J Siegelaer, Eric E J G L Smeets

Journal: Eur. J. Hum. Genet.. 2015 Apr;23(4):543-6.

 

We identified an identical and recurrent 9.4-Mbp deletion at chromosome bands 2p11.2-2p12, which occurred de novo in two unrelated patients. It is flanked at the distal and proximal breakpoints by two homologous segmental duplications consisting of low copy repeat (LCR) blocks in ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Chromosome Duplications" returned 3 free, full-text review articles on human participants. First 3 results:

Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: study of two cases and review of the literature.
 

Author(s): Michael R Rossi, Miriam S DiMaio, Bixia Xiang, Kangmo Lu, Hande Kaymakcalan, Margretta Seashore, Maurice J Mahoney, Peining Li

Journal: Am. J. Med. Genet. A. 2009 Dec;149A(12):2788-94.

 

Variable clinical presentations of patients with chromosomally detected deletions in the distal long arm (q) of chromosome 4 have been reported. The lack of molecular characterization of the deletion sizes and deleted genes hinders further genotype-phenotype correlation. Using a validated ...

Last Updated: 31 Dec 1969

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Molecular cytogenetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromere.
 

Author(s): P E Warburton, M Dolled, R Mahmood, A Alonso, S Li, K Naritomi, T Tohma, T Nagai, T Hasegawa, H Ohashi, L C Govaerts, B H Eussen, J O Van Hemel , C Lozzio, S Schwartz, J J Dowhanick-Morrissette, N B Spinner, H Rivera, J A Crolla, C Yu, D Warburton

Journal: Am. J. Hum. Genet.. 2000 Jun;66(6):1794-806.

 

Neocentromeres are fully functional centromeres that have arisen in previously noncentromeric chromosomal locations on rearranged chromosomes. The formation of neocentromeres results in the mitotic stability of chromosomal fragments that do not contain endogenous centromeres and that ...

Last Updated: 31 Dec 1969

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Clinical and molecular evaluation of four patients with partial duplications of the long arm of chromosome 18.
 

Author(s): R Mewar, A D Kline, W Harrison, K Rojas, F Greenberg, J Overhauser

Journal: Am. J. Hum. Genet.. 1993 Dec;53(6):1269-78.

 

Four individuals with partial duplications of the long arm of chromosome 18 were analyzed at the clinical, cytogenetic, and molecular levels. Two of the individuals had duplications of the long arm from 18q21.1-qter because of inheritance of an unbalanced translocation. Both of these ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Characterization of 3q29 Deletion Syndrome and 3q29 Duplication Syndrome
 

Status: Recruiting

Condition Summary: Microdeletion 3q29 Syndrome; Microduplication 3q29 Syndrome

 

Last Updated: 16 Jan 2018

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Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA
 

Status: Recruiting

Condition Summary: Microdeletion Syndromes; Trisomy 21; Trisomy 18; Trisomy 13; Sex Chromosome Abnormalities

 

Last Updated: 21 Sep 2017

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The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy
 

Status: Recruiting

Condition Summary: Klinefelter Syndrome; Trisomy X; XYY Syndrome; XXXY and XXXXY Syndrome; Xxyy Syndrome; Xyyy Syndrome; Xxxx Syndrome; Xxxxx Syndrome; Xxxyy Syndrome; Xxyyy Syndrome; Xyyyy Syndrome; Male With Sex Chromosome Mosaicism

 

Last Updated: 10 Jan 2018

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