Chromosome Mosaicism

Common Name(s)

Chromosome Mosaicism

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

Trisomy 18 Foundation

The Trisomy 18 Foundation (T18F) is the leading national organization devoted exclusively to improving outcomes for Trisomy 18 families in the United States. Committed to the support of medical research in finding effective treatments and preventions for Trisomy 18. The T18F also educates patient families and physicians about prevention, diagnosis and the treatment of Trisomy 18. The T18F is an active advocate for the Trisomy 18 community, helping to raise awareness of this disease and the need for treatments. The T18F's website is the premier source for educating the public about Trisomy 18 and impacted families..

Last Updated: 24 Jul 2015

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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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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

Trisomy 18 Foundation

The Trisomy 18 Foundation (T18F) is the leading national organization devoted exclusively to improving outcomes for Trisomy 18 families in the United States. Committed to the support of medical research in finding effective treatments and preventions for Trisomy 18. The T18F also educates patient families and physicians about prevention, diagnosis and the treatment of Trisomy 18. The T18F is an active advocate for the Trisomy 18 community, helping to raise awareness of this disease and the need for treatments. The T18F's website is the premier source for educating the public about Trisomy 18 and impacted families..

http://www.trisomy18.org

Last Updated: 24 Jul 2015

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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.

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 Mosaicism" returned 68 free, full-text research articles on human participants. First 3 results:

The maternal uniparental disomy of chromosome 6 (upd(6)mat) "phenotype": result of placental trisomy 6 mosaicism?
 

Author(s): Thomas Eggermann, Barbara Oehl-Jaschkowitz, Severin Dicks, Wolfgang Thomas, Deniz Kanber, Beate Albrecht, Matthias Begemann, Ingo Kurth, Jasmin Beygo, Karin Buiting

Journal: Mol Genet Genomic Med. 2017 11;5(6):668-677.

 

Maternal uniparental disomy of chromosome 6 (upd(6)mat) is a rare finding and its clinical relevance is currently unclear. Based on clinical data from two new cases and patients from the literature, the pathogenetic significance of upd(6)mat is delineated.

Last Updated: 31 Dec 1969

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Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 16.
 

Author(s): Chih-Ping Chen, Tsang-Ming Ko, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Chien-Wen Yang, Chen-Wen Pan, Wayseen Wang

Journal: Taiwan J Obstet Gynecol. 2017 Aug;56(4):545-549.

 

We present prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 16.

Last Updated: 31 Dec 1969

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Detection of paternal uniparental disomy 9 in a neonate with prenatally detected mosaicism for a small supernumerary marker chromosome 9 and a supernumerary ring chromosome 9.
 

Author(s): Chih-Ping Chen, Ming Chen, Liang-Kai Wang, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Shun-Ping Chang, Chien-Wen Yang, Chen-Wen Pan, Wayseen Wang

Journal: Taiwan J Obstet Gynecol. 2017 Aug;56(4):527-533.

 

We present the association of paternal uniparental disomy (UPD) 9 with mosaicism for a small supernumerary marker chromosome 9 [sSMC(9)] and a supernumerary ring chromosome 9 [r(9)].

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 Mosaicism" returned 1 free, full-text review articles on human participants. First 3 results:

Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 21q11.2-q21.1 and a literature review.
 

Author(s): Chih-Ping Chen, Ming Chen, Chia-Hsun Wu, Chen-Ju Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Shun-Ping Chang, Li-Feng Chen, Wayseen Wang

Journal: Taiwan J Obstet Gynecol. 2017 Aug;56(4):554-557.

 

We present prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 21q11.2-q21.1, and we review the literature of an sSMC(21) with a duplication of 21q11.2-q21.1.

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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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Health, Fitness, and Quality of Life in Adolescent Girls With Turner Syndrome
 

Status: Recruiting

Condition Summary: Turner Syndrome; Turner Syndrome Mosaicism, 45, X/46, XX or XY; Turner Syndrome Mosaicism 46,X,I(X)(Q10)/45,X; Turner Syndrome Karyotype 46,X With Abnormal Sex Chromosome , Except I(Xq)

 

Last Updated: 4 Oct 2017

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