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A de novo chromosome 9p duplication in a female child with short stature and developmental delay

Chromosome 9p duplication, also known as a partial trisomy 9p, is a rare chromosome abnormality due to a duplication of the partial short arm of chromosome 9. More than 200 cases are reported in the literature. Major clinical findings include short stature, developmental delay, intellectual disabili...

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Autores principales: Tkemaladze, Tinatin, Bregvadze, Kakha, Papiashvili, Nikoloz, Gagua, Sopio, Abzianidze, Elene
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10031590/
https://www.ncbi.nlm.nih.gov/pubmed/36968988
http://dx.doi.org/10.1177/2050313X231160883
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author Tkemaladze, Tinatin
Bregvadze, Kakha
Papiashvili, Nikoloz
Gagua, Sopio
Abzianidze, Elene
author_facet Tkemaladze, Tinatin
Bregvadze, Kakha
Papiashvili, Nikoloz
Gagua, Sopio
Abzianidze, Elene
author_sort Tkemaladze, Tinatin
collection PubMed
description Chromosome 9p duplication, also known as a partial trisomy 9p, is a rare chromosome abnormality due to a duplication of the partial short arm of chromosome 9. More than 200 cases are reported in the literature. Major clinical findings include short stature, developmental delay, intellectual disability, and characteristic facial dysmorphic features. The most common origin of this syndrome is malsegregation of a parental reciprocal translocation. Only about 25 cases are reported as de novo in the literature, the rest being inherited from asymptomatic balanced carrier parents. We report an additional new case of de novo partial trisomy 9p in an 8-year-old girl, and describe her clinical manifestations and diagnostic testing results.
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spelling pubmed-100315902023-03-23 A de novo chromosome 9p duplication in a female child with short stature and developmental delay Tkemaladze, Tinatin Bregvadze, Kakha Papiashvili, Nikoloz Gagua, Sopio Abzianidze, Elene SAGE Open Med Case Rep Case Report Chromosome 9p duplication, also known as a partial trisomy 9p, is a rare chromosome abnormality due to a duplication of the partial short arm of chromosome 9. More than 200 cases are reported in the literature. Major clinical findings include short stature, developmental delay, intellectual disability, and characteristic facial dysmorphic features. The most common origin of this syndrome is malsegregation of a parental reciprocal translocation. Only about 25 cases are reported as de novo in the literature, the rest being inherited from asymptomatic balanced carrier parents. We report an additional new case of de novo partial trisomy 9p in an 8-year-old girl, and describe her clinical manifestations and diagnostic testing results. SAGE Publications 2023-03-21 /pmc/articles/PMC10031590/ /pubmed/36968988 http://dx.doi.org/10.1177/2050313X231160883 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access page (https://us.sagepub.com/en-us/nam/open-access-at-sage).
spellingShingle Case Report
Tkemaladze, Tinatin
Bregvadze, Kakha
Papiashvili, Nikoloz
Gagua, Sopio
Abzianidze, Elene
A de novo chromosome 9p duplication in a female child with short stature and developmental delay
title A de novo chromosome 9p duplication in a female child with short stature and developmental delay
title_full A de novo chromosome 9p duplication in a female child with short stature and developmental delay
title_fullStr A de novo chromosome 9p duplication in a female child with short stature and developmental delay
title_full_unstemmed A de novo chromosome 9p duplication in a female child with short stature and developmental delay
title_short A de novo chromosome 9p duplication in a female child with short stature and developmental delay
title_sort de novo chromosome 9p duplication in a female child with short stature and developmental delay
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10031590/
https://www.ncbi.nlm.nih.gov/pubmed/36968988
http://dx.doi.org/10.1177/2050313X231160883
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