American J of Med Genetics Pt A

2003

DOI: 10.1002/ajmg.a.20086

|View full text |Cite

|

Sign up to set email alerts

|

Trisomy 8 mosaicism in a patient born to a mother with 47,XXX

¹

,

²

,

³

et al.

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...

Discussion2

Citation Types

Supporting

0

Mentioning

2

Contrasting

0

Year Published

2005

2005

2016

2016

Publication Types

Select...

Article4

Relationship

Self Cite0

Independent4

Authors

Journals

Cited by 4 publications

(2 citation statements)

References 7 publications

Supporting

0

Mentioning

2

Contrasting

0

Order By: Relevance

“…This could hypothetically be explained by the following 2 scenarios: tissue-specific mosaicism and uniparental disomy (UPD). It has been proposed that in some cells the loss of the extra copy of chromosome 8 could lead to mo- saicism [Habecker-Green et al, 1998;Nucaro et al, 2003;Alkuraya and Harris, 2005]. In contrast, 2 candidate genes ( KCNK9 : oncogene , DLGAP2 : tumor suppressor) on chromosome 8 may be related to UPD [Luedi et al, 2007].…”

Section: Discussionmentioning

confidence: 99%

Constitutional Trisomy 8 Mosaicism with Persistent Macrocytosis

¹

,

2016

Cytogenet Genome Res

View full text Add to dashboard Cite

Constitutional trisomy 8 mosaicism (CT8M) is a rare chromosomal abnormality. The phenotype varies from normal features to severe malformations. CT8M increases the risk of developing leukemia and myelodysplastic syndrome. As CT8M is very rare, its diagnosis can easily be overlooked, especially in cases with mild phenotypes. Here, we report the diagnostic process of a 40-year-old female patient with CT8M and discuss the importance of follow-up in monitoring for hematological malignancies.

“…This could hypothetically be explained by the following 2 scenarios: tissue-specific mosaicism and uniparental disomy (UPD). It has been proposed that in some cells the loss of the extra copy of chromosome 8 could lead to mo- saicism [Habecker-Green et al, 1998;Nucaro et al, 2003;Alkuraya and Harris, 2005]. In contrast, 2 candidate genes ( KCNK9 : oncogene , DLGAP2 : tumor suppressor) on chromosome 8 may be related to UPD [Luedi et al, 2007].…”

Section: Discussionmentioning

confidence: 99%

Constitutional Trisomy 8 Mosaicism with Persistent Macrocytosis

¹

,

2016

Cytogenet Genome Res

View full text Add to dashboard Cite

Constitutional trisomy 8 mosaicism (CT8M) is a rare chromosomal abnormality. The phenotype varies from normal features to severe malformations. CT8M increases the risk of developing leukemia and myelodysplastic syndrome. As CT8M is very rare, its diagnosis can easily be overlooked, especially in cases with mild phenotypes. Here, we report the diagnostic process of a 40-year-old female patient with CT8M and discuss the importance of follow-up in monitoring for hematological malignancies.

“…Tissue-specific mosaicism, as well as the potential for uniparental disomy as a result of trisomy rescue, were invoked as possible explanations (Nucaro et al, 2003). CT8M was found to be mostly due to mitotic nondisjunction error in live-born infants (Robinson et al, 1993;DeBrasi et al, 1995;James and Jacobs, 1996;Seghezzi et al, 1996;Karadima et al, 1998).…”

Section: Discussionmentioning

confidence: 99%

Trisomy 8 mosaicism in a patient with heterotaxia

¹

,

²

2005

Birth Defect Res A

View full text Add to dashboard Cite

Constitutional trisomy 8 mosaicism (CT8M) is a relatively rare trisomy in humans with a characteristic phenotype. We report an infant with the characteristic CT8M phenotype in addition to heterotaxia. A number of chromosomal abnormalities have been reported in association with laterality defects but this is the first time heterotaxia is reported in CT8M. In addition to expanding CT8M phenotype, our report may provide insight into the mechanism of heterotaxia.

Identification of genomic loci contributing to agenesis of the corpus callosum

¹

,

²

,

Clayton‐Smith

³

et al. 2010

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Agenesis of the corpus callosum (ACC) is a common brain malformation of variable clinical expression that is seen in many syndromes of various etiologies. Although ACC is predominantly genetic, few genes have as yet been identified. We have constructed and analyzed a comprehensive map of ACC loci across the human genome using data generated from 374 patients with ACC and structural chromosome rearrangements, most having heterozygous loss or gain of genomic sequence and a few carrying apparently balanced rearrangements hypothesized to disrupt key functional genes. This cohort includes more than 100 previously unpublished patients. The subjects were ascertained from several large research databases as well as the published literature over the last 35 years. We identified 12 genomic loci that are consistently associated with ACC, and at least 30 other recurrent loci that may also contain genes that cause or contribute to ACC. Our data also support the hypothesis that many ACC loci confer susceptibility to other brain malformations as well as ACC, such as cerebellar hypoplasia, microcephaly, and polymicrogyria. The database presented here provides a valuable resource for diagnosis and management of individuals with ACC and individuals with chromosome rearrangements in whom ACC should be suspected, and of course for identifying ACC causal and contributory genes. Well-defined diagnostic criteria, improved scanning techniques, and increased recognition of associated abnormalities will further facilitate gene mapping and allow definition of distinct syndromes within this heterogeneous group of patients.

scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.

Contact Info

customersupport@researchsolutions.com

10624 S. Eastern Ave., Ste. A-614

Henderson, NV 89052, USA

Product

Browser Extension Assistant by scite Citation Statement Search Reference Check Visualizations Dashboards Explore Journals Explore Organizations Explore Funders Embedding Badge Embedding Citation Search Pricing

Resources

Blog Help & FAQ Accessibility Statement API Terms For Universities & Governments For Researchers For Publishers For Corporate, Pharma & Enterprise Author Marketing Become an Affiliate Get an organization trial or quote scite Data & Services

About

News & Press Careers Read our Paper Coverage

This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.

Blog Terms and Conditions API Terms Privacy Policy Contact Cookie Preferences Do Not Sell or Share My Personal Information

Copyright © 2025 scite LLC. All rights reserved.

Made with 💙 for researchers

Part of the Research Solutions Family.