Deletion of the short arm of chromosome 20 in a girl with neurodevelopmental disorders

Alina García García, Juan E. Galarza Brito, Luanda Maceiras Rosales, Estela Morales Peralta and Luis A. Méndez Rosado
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Alina García García: Hospital pediátrico universitario “William Soler”. Habana. Cuba
Juan E. Galarza Brito: Servicio de Pediatría, Hospital General “Teofilo Davila”, Machala. Ecuador
Luanda Maceiras Rosales: Centro Nacional de Genética Médica. Habana. Cuba
Estela Morales Peralta: Centro Nacional de Genética Médica. Habana. Cuba
Luis A. Méndez Rosado: Centro Nacional de Genética Médica. Habana. Cuba

Neurodivergences, 2025, vol. 4, 174

Abstract: Introduction: Deletions of the short arm of chromosome 20 are a relatively rare chromosomal abnormality, with few reported cases in the literature and a wide range of clinical manifestations.Objective: To describe the phenotypic features of a patient with an unusual deletion in the distal region of the short arm of chromosome 20.Results: The patient exhibited severe neurodevelopmental delay, cardiac, gastrointestinal, and cerebral malformations, as well as multiple dysmorphic features. A high-resolution karyotype, analyzing 20 metaphases with GTG banding, detected a terminal deletion in the short arm of chromosome 20, with the karyotype 46,XX,del(20)(p12.2). Cytogenetic analysis of the mother revealed a karyotype (46,XX). Paternal karyotype analysis was not possible, so it could not be determined whether the deletion was inherited or occurred de novo. Several protein-coding genes mapped to the deleted region were identified.Conclusion: Most of the clinical manifestations observed in the patient are likely due to haploinsufficiency of the genes affected by the deletion on the short arm of chromosome 20. However, some malformations cannot be directly attributed to this phenomenon.

Keywords: chromosome; deletion; partial monosomy; chrosomose aberrations; neurodelelopmental delay (search for similar items in EconPapers)
Date: 2025
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Persistent link: https://EconPapers.repec.org/RePEc:cwj:neurod:v:4:y:2025:id:174

DOI: 10.56294/neuro2025174

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