Terminal 6q27 Microdeletion Syndrome: A Case Report

A 10-year-old female with a history of global developmental delay (reduced concentration, cognitive impairment, and difficulty in reading and writing), scoliosis, aggressiveness, toe walking, and brain malformations was observed in the pediatric development outpatient consultation of Hospital de San...

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Autores principales: Ferreira Vieira, Maycoll, Carvalho, Daniela, Valentim, Filipa, Branco, Diogo M, Marinho, Helena Martinha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9720043/
https://www.ncbi.nlm.nih.gov/pubmed/36475138
http://dx.doi.org/10.7759/cureus.31037
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author Ferreira Vieira, Maycoll
Carvalho, Daniela
Valentim, Filipa
Branco, Diogo M
Marinho, Helena Martinha
author_facet Ferreira Vieira, Maycoll
Carvalho, Daniela
Valentim, Filipa
Branco, Diogo M
Marinho, Helena Martinha
author_sort Ferreira Vieira, Maycoll
collection PubMed
description A 10-year-old female with a history of global developmental delay (reduced concentration, cognitive impairment, and difficulty in reading and writing), scoliosis, aggressiveness, toe walking, and brain malformations was observed in the pediatric development outpatient consultation of Hospital de Santo Espírito da Ilha Terceira (HSEIT), Azores, Portugal. A genetic study was carried out and showed a terminal 6q27 microdeletion, a rare disorder. Being so rare, it’s important to share with the wider medical community any of such cases so early diagnosis can occur and interventions may be developed.
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spelling pubmed-97200432022-12-05 Terminal 6q27 Microdeletion Syndrome: A Case Report Ferreira Vieira, Maycoll Carvalho, Daniela Valentim, Filipa Branco, Diogo M Marinho, Helena Martinha Cureus Genetics A 10-year-old female with a history of global developmental delay (reduced concentration, cognitive impairment, and difficulty in reading and writing), scoliosis, aggressiveness, toe walking, and brain malformations was observed in the pediatric development outpatient consultation of Hospital de Santo Espírito da Ilha Terceira (HSEIT), Azores, Portugal. A genetic study was carried out and showed a terminal 6q27 microdeletion, a rare disorder. Being so rare, it’s important to share with the wider medical community any of such cases so early diagnosis can occur and interventions may be developed. Cureus 2022-11-02 /pmc/articles/PMC9720043/ /pubmed/36475138 http://dx.doi.org/10.7759/cureus.31037 Text en Copyright © 2022, Ferreira Vieira et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Genetics
Ferreira Vieira, Maycoll
Carvalho, Daniela
Valentim, Filipa
Branco, Diogo M
Marinho, Helena Martinha
Terminal 6q27 Microdeletion Syndrome: A Case Report
title Terminal 6q27 Microdeletion Syndrome: A Case Report
title_full Terminal 6q27 Microdeletion Syndrome: A Case Report
title_fullStr Terminal 6q27 Microdeletion Syndrome: A Case Report
title_full_unstemmed Terminal 6q27 Microdeletion Syndrome: A Case Report
title_short Terminal 6q27 Microdeletion Syndrome: A Case Report
title_sort terminal 6q27 microdeletion syndrome: a case report
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9720043/
https://www.ncbi.nlm.nih.gov/pubmed/36475138
http://dx.doi.org/10.7759/cureus.31037
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AT brancodiogom terminal6q27microdeletionsyndromeacasereport
AT marinhohelenamartinha terminal6q27microdeletionsyndromeacasereport

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