Cargando…

A De Novo 8q22.2q22.3 Interstitial Microdeletion in a Girl with Developmental Delay and Congenital Defects

Background and Objectives: Only nine patients with interstitial de novo 8q22.2q22.3 microdeletions have been reported to date. The objective of this report is to present clinical features of a new patient with an 8q22.2q22.3 microdeletion, to compare her phenotype to other previously reported patien...

Descripción completa

Detalles Bibliográficos
Autores principales: Kalinauskiene, Ruta, Brazdziunaite, Deimante, Burokiene, Neringa, Dirsė, Vaidas, Morkuniene, Ausra, Utkus, Algirdas, Preiksaitiene, Egle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10302461/
https://www.ncbi.nlm.nih.gov/pubmed/37374360
http://dx.doi.org/10.3390/medicina59061156
_version_ 1785065050184089600
author Kalinauskiene, Ruta
Brazdziunaite, Deimante
Burokiene, Neringa
Dirsė, Vaidas
Morkuniene, Ausra
Utkus, Algirdas
Preiksaitiene, Egle
author_facet Kalinauskiene, Ruta
Brazdziunaite, Deimante
Burokiene, Neringa
Dirsė, Vaidas
Morkuniene, Ausra
Utkus, Algirdas
Preiksaitiene, Egle
author_sort Kalinauskiene, Ruta
collection PubMed
description Background and Objectives: Only nine patients with interstitial de novo 8q22.2q22.3 microdeletions have been reported to date. The objective of this report is to present clinical features of a new patient with an 8q22.2q22.3 microdeletion, to compare her phenotype to other previously reported patients, and to further expand the phenotype associated with this microdeletion. Materials and Methods: We describe an 8½-year-old girl with developmental delay, congenital hip dysplasia, a bilateral foot deformity, bilateral congenital radioulnar synostosis, a congenital heart defect, and minor facial anomalies. Results: Chromosomal microarray analysis revealed a 4.9 Mb deletion in the 8q22.2q22.3 region. De novo origin was confirmed by real-time PCR analysis. Conclusions: Microdeletions in the 8q22.2q22.3 region are characterized by moderate to severe intellectual disability, seizures, distinct facial features and skeletal abnormalities. In addition to one already reported individual with an 8q22.2q22.3 microdeletion and unilateral radioulnar synostosis, this report of a child with bilateral radioulnar synostosis provides additional evidence, that radioulnar synostosis is not an incidental finding in individuals with an 8q22.2q22.3 microdeletion. Additional patients with similar microdeletions would be of a great importance for more accurate phenotypic description and further analysis of the genotypic-phenotypic relationship.
format Online
Article
Text
id pubmed-10302461
institution National Center for Biotechnology Information
language English
publishDate 2023
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-103024612023-06-29 A De Novo 8q22.2q22.3 Interstitial Microdeletion in a Girl with Developmental Delay and Congenital Defects Kalinauskiene, Ruta Brazdziunaite, Deimante Burokiene, Neringa Dirsė, Vaidas Morkuniene, Ausra Utkus, Algirdas Preiksaitiene, Egle Medicina (Kaunas) Case Report Background and Objectives: Only nine patients with interstitial de novo 8q22.2q22.3 microdeletions have been reported to date. The objective of this report is to present clinical features of a new patient with an 8q22.2q22.3 microdeletion, to compare her phenotype to other previously reported patients, and to further expand the phenotype associated with this microdeletion. Materials and Methods: We describe an 8½-year-old girl with developmental delay, congenital hip dysplasia, a bilateral foot deformity, bilateral congenital radioulnar synostosis, a congenital heart defect, and minor facial anomalies. Results: Chromosomal microarray analysis revealed a 4.9 Mb deletion in the 8q22.2q22.3 region. De novo origin was confirmed by real-time PCR analysis. Conclusions: Microdeletions in the 8q22.2q22.3 region are characterized by moderate to severe intellectual disability, seizures, distinct facial features and skeletal abnormalities. In addition to one already reported individual with an 8q22.2q22.3 microdeletion and unilateral radioulnar synostosis, this report of a child with bilateral radioulnar synostosis provides additional evidence, that radioulnar synostosis is not an incidental finding in individuals with an 8q22.2q22.3 microdeletion. Additional patients with similar microdeletions would be of a great importance for more accurate phenotypic description and further analysis of the genotypic-phenotypic relationship. MDPI 2023-06-15 /pmc/articles/PMC10302461/ /pubmed/37374360 http://dx.doi.org/10.3390/medicina59061156 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Kalinauskiene, Ruta
Brazdziunaite, Deimante
Burokiene, Neringa
Dirsė, Vaidas
Morkuniene, Ausra
Utkus, Algirdas
Preiksaitiene, Egle
A De Novo 8q22.2q22.3 Interstitial Microdeletion in a Girl with Developmental Delay and Congenital Defects
title A De Novo 8q22.2q22.3 Interstitial Microdeletion in a Girl with Developmental Delay and Congenital Defects
title_full A De Novo 8q22.2q22.3 Interstitial Microdeletion in a Girl with Developmental Delay and Congenital Defects
title_fullStr A De Novo 8q22.2q22.3 Interstitial Microdeletion in a Girl with Developmental Delay and Congenital Defects
title_full_unstemmed A De Novo 8q22.2q22.3 Interstitial Microdeletion in a Girl with Developmental Delay and Congenital Defects
title_short A De Novo 8q22.2q22.3 Interstitial Microdeletion in a Girl with Developmental Delay and Congenital Defects
title_sort de novo 8q22.2q22.3 interstitial microdeletion in a girl with developmental delay and congenital defects
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10302461/
https://www.ncbi.nlm.nih.gov/pubmed/37374360
http://dx.doi.org/10.3390/medicina59061156
work_keys_str_mv AT kalinauskieneruta adenovo8q222q223interstitialmicrodeletioninagirlwithdevelopmentaldelayandcongenitaldefects
AT brazdziunaitedeimante adenovo8q222q223interstitialmicrodeletioninagirlwithdevelopmentaldelayandcongenitaldefects
AT burokieneneringa adenovo8q222q223interstitialmicrodeletioninagirlwithdevelopmentaldelayandcongenitaldefects
AT dirsevaidas adenovo8q222q223interstitialmicrodeletioninagirlwithdevelopmentaldelayandcongenitaldefects
AT morkunieneausra adenovo8q222q223interstitialmicrodeletioninagirlwithdevelopmentaldelayandcongenitaldefects
AT utkusalgirdas adenovo8q222q223interstitialmicrodeletioninagirlwithdevelopmentaldelayandcongenitaldefects
AT preiksaitieneegle adenovo8q222q223interstitialmicrodeletioninagirlwithdevelopmentaldelayandcongenitaldefects
AT kalinauskieneruta denovo8q222q223interstitialmicrodeletioninagirlwithdevelopmentaldelayandcongenitaldefects
AT brazdziunaitedeimante denovo8q222q223interstitialmicrodeletioninagirlwithdevelopmentaldelayandcongenitaldefects
AT burokieneneringa denovo8q222q223interstitialmicrodeletioninagirlwithdevelopmentaldelayandcongenitaldefects
AT dirsevaidas denovo8q222q223interstitialmicrodeletioninagirlwithdevelopmentaldelayandcongenitaldefects
AT morkunieneausra denovo8q222q223interstitialmicrodeletioninagirlwithdevelopmentaldelayandcongenitaldefects
AT utkusalgirdas denovo8q222q223interstitialmicrodeletioninagirlwithdevelopmentaldelayandcongenitaldefects
AT preiksaitieneegle denovo8q222q223interstitialmicrodeletioninagirlwithdevelopmentaldelayandcongenitaldefects