Cromosoma 22 en anillo en paciente con trastorno del neurodesarrollo

Patricia Torriani Mendoza; Gretell Huerta Pérez; Luanda Maceira Rosales; Luis A. Méndez Rosado

doi:10.56294/sctconf2023345

Original

Published: 2023-05-13

DOI: https://doi.org/10.56294/sctconf2023345

Chromosome 22 ring in patient with neurodevelopmental disorder

Abstract

Introduction: Ring chromosomes are a rare type of structural anomaly with variable size and gene content and can originate from any chromosome. According to the international literature, the clinical features associated with ring chromosome 22 will depend on the extent of the 22q terminal deletion.
Objective: To describe the relationship between phenotype and karyotype of a patient with ring chromosome 22.
Case report: A cytogenetic study was performed in the Cytogenetic Laboratory of the National Center of Medical Genetics in a female patient referred for suspicion of possible chromosomal aberration, with the following indications: Autism Spectrum Disorder, intellectual disability, facial dysmorphias. High Resolution Technique for the culture of lymphocytes without exogenous serum and GTG bands was used for karyotyping. Karyotyping revealed an apparent chromosome 22 ring, whose formula is 46, XX, r (22) (p11.2; q13.2) in 10 metaphases with a resolution of 450 bands. The karyotype of the parents is normal 46, XX and 46, XY.
Conclusions: The cytogenetic study allowed establishing the possible association between autism spectrum disorders and the ring of 22 due to loss of genes such as SHANK3 (located on 22q13), which is a candidate for mutations in 1 to 2% of these patients.

Keywords:

autism,

ring chromosome 22,

cytogenetic analysis,

How to Cite

Torriani Mendoza P, Huerta Pérez G, Maceira Rosales L, Méndez Rosado LA. Chromosome 22 ring in patient with neurodevelopmental disorder. Salud, Ciencia y Tecnología - Serie de Conferencias [Internet]. 2023 May 13 [cited 2024 Jul. 3];2:345. Available from: https://conferencias.saludcyt.ar/index.php/sctconf/article/view/345

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The article is distributed under the Creative Commons Attribution 4.0 License. Unless otherwise stated, associated published material is distributed under the same licence.

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IV Jornadas de Fundamentos y Aplicaciones de la Interdisciplina (JFAI2023)

Vol. 2 (2023)

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