Finding of 'dynamic mosaicism' in a female patient with ring chromosome 18

Authors

  • Mónica Díaz García Laboratorio de Medicina Genómica, Centro Nacional de Investigación y Atención a Quemados. Instituto Na- cional de Rehabilitación.
  • Ma. Teresa Bautista Tirado Laboratorio de Medicina Genómica, Centro Nacional de Investigación y Atención a Quemados. Instituto Nacional de Rehabilitación.
  • Silvia María del Carmen Arenas Díaz Laboratorio de Medicina Genómica, Centro Nacional de Investigación y Atención a Quemados. Instituto Nacional de Rehabilitación.
  • Norberto Leyva García Laboratorio de Medicina Genómica 6o piso, CENIAQ, Instituto Nacional de Rehabilitación.

Keywords:

Ring chromosome 18, ring chromosome 18 mosaicism, dysmorphisms, mental retardation

Abstract

Ring 18 chromosome or [r(18)] is a structural re-arrangement when become broken its both
ends and become fused to form a ring. Patients who have [r(18)] may develop such an 18q or
18p deletion syndrome depending on the size of deleted regions. So phenotype will depend

at last on the magnitude of reduction in the r(18) chromosome. This paper presents the clini-
cal analysis and cytogenetic study of a patient with dynamic mosaicism ring chromosome 18.

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Published

2026-04-08

How to Cite

1.
Díaz García M, Bautista Tirado MT, Arenas Díaz SM del C, Leyva García N. Finding of ’dynamic mosaicism’ in a female patient with ring chromosome 18. Invest. Discapacidad [Internet]. 2026 Apr. 8 [cited 2026 Apr. 8];3(4):185-9. Available from: https://dsm.inr.gob.mx/indiscap/index.php/INDISCAP/article/view/916

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Case reports and case series

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