Complete uniparental disomy of chromosome 1 in a child with isolated developmental delay

Complete uniparental disomy of chromosome 1 (UPD1) is an uncommon genetic finding about which a specific phenotype has not yet been established. We present a boy who has complete paternal UPD1 and isolated developmental delay and suggest that there is no clear phenotype of UPD1.

Detalles Bibliográficos
Autores principales: Wallerstein, Violet, Grant, Leon, Wallerstein, Robert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9307878/
https://www.ncbi.nlm.nih.gov/pubmed/35898748
http://dx.doi.org/10.1002/ccr3.5956
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author Wallerstein, Violet
Grant, Leon
Wallerstein, Robert
author_facet Wallerstein, Violet
Grant, Leon
Wallerstein, Robert
author_sort Wallerstein, Violet
collection PubMed
description Complete uniparental disomy of chromosome 1 (UPD1) is an uncommon genetic finding about which a specific phenotype has not yet been established. We present a boy who has complete paternal UPD1 and isolated developmental delay and suggest that there is no clear phenotype of UPD1.
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spelling pubmed-93078782022-07-26 Complete uniparental disomy of chromosome 1 in a child with isolated developmental delay Wallerstein, Violet Grant, Leon Wallerstein, Robert Clin Case Rep Case Report Complete uniparental disomy of chromosome 1 (UPD1) is an uncommon genetic finding about which a specific phenotype has not yet been established. We present a boy who has complete paternal UPD1 and isolated developmental delay and suggest that there is no clear phenotype of UPD1. John Wiley and Sons Inc. 2022-07-22 /pmc/articles/PMC9307878/ /pubmed/35898748 http://dx.doi.org/10.1002/ccr3.5956 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Report
Wallerstein, Violet
Grant, Leon
Wallerstein, Robert
Complete uniparental disomy of chromosome 1 in a child with isolated developmental delay
title Complete uniparental disomy of chromosome 1 in a child with isolated developmental delay
title_full Complete uniparental disomy of chromosome 1 in a child with isolated developmental delay
title_fullStr Complete uniparental disomy of chromosome 1 in a child with isolated developmental delay
title_full_unstemmed Complete uniparental disomy of chromosome 1 in a child with isolated developmental delay
title_short Complete uniparental disomy of chromosome 1 in a child with isolated developmental delay
title_sort complete uniparental disomy of chromosome 1 in a child with isolated developmental delay
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9307878/
https://www.ncbi.nlm.nih.gov/pubmed/35898748
http://dx.doi.org/10.1002/ccr3.5956
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