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CC BY 4.0 · Glob Med Genet 2023; 10(03): 234-239
DOI: 10.1055/s-0043-1774291
Case Report

A Young Boy with 21q21.1 Microdeletion Showing Speech Delay, Spastic Diplegia, and MRI Abnormalities: Original Case Report

Piero Pavone   *
1   Department of Child and Experimental Medicine, Section of Paediatrics and Child Neuropsychiatry, University of Catania, Italy
4   National Council of Research, Institute for Biomedical Research and Innovation (IRIB), Unit of Catania, Italy
,
Raffaele Falsaperla
2   Unit of Pediatrics and Pediatric Emergency, University Hospital Policlinico “G. Rodolico-San Marco,” Catania, Italy
3   Neonatal Intensive Care Unit, San Marco Hospital, University Hospital Policlinico “G. Rodolico-San Marco,” Catania, Italy
,
Martino Ruggieri
1   Department of Child and Experimental Medicine, Section of Paediatrics and Child Neuropsychiatry, University of Catania, Italy
,
Simona Domenica Marino
3   Neonatal Intensive Care Unit, San Marco Hospital, University Hospital Policlinico “G. Rodolico-San Marco,” Catania, Italy
,
Enrico Parano
4   National Council of Research, Institute for Biomedical Research and Innovation (IRIB), Unit of Catania, Italy
,
Xena Giada Pappalardo   *
4   National Council of Research, Institute for Biomedical Research and Innovation (IRIB), Unit of Catania, Italy
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Abstract

Chromosome 21q deletion syndrome is a rare disorder affecting the long arm of chromosome 21 and manifesting with wide phenotypic features depending on the size and position of the deleted region. In the syndrome, three distinct deleted regions have been distinguished: region 1, from the centromere to approximately 31.2 Mb (21q11.2-q22.11); region 2, from 31.2 to 36 Mb (21q22.11-q22.12); and region 3, from 36 to 37.5 Mb to the telomere (21q22.12-q22.3). The clinical features are highly variable manifesting with mild, poorly recognizable signs or with severe symptoms including craniofacial dysmorphism, growth failure, developmental delay, behavioral/affective abnormalities, and systemic malformations. We report here the case of a young boy with speech delay, mild spastic diplegia, and brain anomalies on magnetic resonance imaging (MRI). The genetic analysis displayed a microdeletion of the long arm of chromosome 21 approximately extending up to 1.08 Mb. Clinical presentation of the patient and cases of 21q21 deletion reported by the literature are discussed.

Keywords

21q21.1 deletion - speech delay - brain anomalies - microRNA - copy number variant

Ethics Approval and Consent to Participate

The research was conducted ethically in accordance with the World Medical Association Declaration of Helsinki and approved by the ethics committee of the University of Catania, Italy (Ethical Committee Catania 1 Clinical Registration n. 95/2018/PO). Written informed consent was obtained from the patient for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.


* Co-first authors.




Publication History

Article published online:
31 August 2023

© 2023. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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