Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22

to related objects

Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1755-8166

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22 ; volume:11 ; number:1 ; day:29 ; month:12 ; year:2018 ; pages:1-5 ; date:12.2018
Molecular cytogenetics ; 11, Heft 1 (29.12.2018), 1-5, 12.2018

Creator: Schnabel, Franziska
Smogavec, Mateja
Funke, Rudolf
Pauli, Silke
Burfeind, Peter
Bartels, Iris

Contributor: SpringerLink (Online service)

DOI: 10.1186/s13039-018-0410-4

URN: urn:nbn:de:101:1-2019022808264475981076

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:46 AM CEST

Data provider

This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.

Show original at data provider

Associated

Schnabel, Franziska
Smogavec, Mateja
Funke, Rudolf
Pauli, Silke
Burfeind, Peter
Bartels, Iris
SpringerLink (Online service)

Other Objects (12)

Complex phenotype with social communication disorder caused by mosaic supernumerary ring chromosome 19p

Graffiti | Streetart

Down DSK BOYS

Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects

Evaluation of comprehensive chromosome screening platforms for the detection of mosaic segmental aneuploidy

Standfoto

Mosaїc

Predictors of mosaic chromosome Y loss and associations with mortality in the UK Biobank

A polygenic risk score predicts mosaic loss of chromosome Y in circulating blood cells

MADloy: robust detection of mosaic loss of chromosome Y from genotype-array-intensity data

Characterization of a rare mosaic X-ring chromosome in a patient with Turner syndrome

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

Circulating macrophages as the mechanistic link between mosaic loss of Y-chromosome and cardiac disease

Kapitel

The mosaic

Complex phenotype with social communication disorder caused by mosaic supernumerary ring chromosome 19p

Graffiti | Streetart

Down DSK BOYS

Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects

Evaluation of comprehensive chromosome screening platforms for the detection of mosaic segmental aneuploidy

Standfoto

Mosaїc

Predictors of mosaic chromosome Y loss and associations with mortality in the UK Biobank

A polygenic risk score predicts mosaic loss of chromosome Y in circulating blood cells

MADloy: robust detection of mosaic loss of chromosome Y from genotype-array-intensity data

Characterization of a rare mosaic X-ring chromosome in a patient with Turner syndrome

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

Circulating macrophages as the mechanistic link between mosaic loss of Y-chromosome and cardiac disease

Kapitel

The mosaic

Complex phenotype with social communication disorder caused by mosaic supernumerary ring chromosome 19p

Graffiti | Streetart

Down DSK BOYS

Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects

Evaluation of comprehensive chromosome screening platforms for the detection of mosaic segmental aneuploidy

Standfoto

Mosaїc

Predictors of mosaic chromosome Y loss and associations with mortality in the UK Biobank

A polygenic risk score predicts mosaic loss of chromosome Y in circulating blood cells

MADloy: robust detection of mosaic loss of chromosome Y from genotype-array-intensity data

Characterization of a rare mosaic X-ring chromosome in a patient with Turner syndrome

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

Circulating macrophages as the mechanistic link between mosaic loss of Y-chromosome and cardiac disease

Kapitel

The mosaic

Cultural heritage institutions wishing to register will find more information here.

Fields marked * need to be filled in.

Username*

Please enter your username

Email*

Please enter your email address

Please do not fill this field

First name

Last name

Password*

Please enter your password

Confirm password*

Please enter the same password

I have read the terms of use and the privacy policy for the collection of personal data and accept them. *

This field is required.

I would like to subscribe to the newsletter of the Deutsche Digitale Bibliothek. See newsletter subscription info.

Account created

Your "My DDB" account has been successfully created. Before you can log in to your account, you must click the confirmation link in the message we just sent to the email address you provided.

Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22

Object Details

References and Relationships

Contributors, Places and Time

Further information

Data provider

Associated

Other Objects (12)

Complex phenotype with social communication disorder caused by mosaic supernumerary ring chromosome 19p

Down DSK BOYS

Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects

Evaluation of comprehensive chromosome screening platforms for the detection of mosaic segmental aneuploidy

Mosaїc

Predictors of mosaic chromosome Y loss and associations with mortality in the UK Biobank

A polygenic risk score predicts mosaic loss of chromosome Y in circulating blood cells

MADloy: robust detection of mosaic loss of chromosome Y from genotype-array-intensity data

Characterization of a rare mosaic X-ring chromosome in a patient with Turner syndrome

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

Circulating macrophages as the mechanistic link between mosaic loss of Y-chromosome and cardiac disease

The mosaic

Complex phenotype with social communication disorder caused by mosaic supernumerary ring chromosome 19p

Down DSK BOYS

Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects

Evaluation of comprehensive chromosome screening platforms for the detection of mosaic segmental aneuploidy

Mosaїc

Predictors of mosaic chromosome Y loss and associations with mortality in the UK Biobank

A polygenic risk score predicts mosaic loss of chromosome Y in circulating blood cells

MADloy: robust detection of mosaic loss of chromosome Y from genotype-array-intensity data

Characterization of a rare mosaic X-ring chromosome in a patient with Turner syndrome

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

Circulating macrophages as the mechanistic link between mosaic loss of Y-chromosome and cardiac disease

The mosaic

Complex phenotype with social communication disorder caused by mosaic supernumerary ring chromosome 19p

Down DSK BOYS

Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects

Evaluation of comprehensive chromosome screening platforms for the detection of mosaic segmental aneuploidy

Mosaїc

Predictors of mosaic chromosome Y loss and associations with mortality in the UK Biobank

A polygenic risk score predicts mosaic loss of chromosome Y in circulating blood cells

MADloy: robust detection of mosaic loss of chromosome Y from genotype-array-intensity data

Characterization of a rare mosaic X-ring chromosome in a patient with Turner syndrome

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

Circulating macrophages as the mechanistic link between mosaic loss of Y-chromosome and cardiac disease

The mosaic

Related objects

Reset password