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A highly specific coding system for structural chromosomal alterations

Authors

  • Prof. Dr. M.L. Martínez-Frías,

    Corresponding author
    1. ECEMC, Centro de Investigación sobre Anomalías Congénitas (CIAC), Instituto de Salud Carlos III, Ministerio de Economía y Competitividad, Madrid, Spain
    2. Departamento de Farmacología, Facultad de Medicia, Universidad Complutense de Madrid, Madrid, Spain
    3. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain
    • Facultad de Medicina, Director Centro de Investigación Anomalías Congénitas (CIAC), Instituto de Salud Carlos III, Avda. Monforte de Lemos, 5. Pabellón 3-1ª planta, Madrid 28029, Spain.
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  • M.L. Martínez-Fernández

    1. ECEMC, Centro de Investigación sobre Anomalías Congénitas (CIAC), Instituto de Salud Carlos III, Ministerio de Economía y Competitividad, Madrid, Spain
    2. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain
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  • The authors declare no conflict of interest.

  • How to Cite this Article: Martínez-Frías ML, Martínez-Fernández ML. 2013. A highly specific coding system for structural chromosomal alterations. Am J Med Genet Part A 161A:732–736

Abstract

The Spanish Collaborative Study of Congenital Malformations (ECEMC, from the name in Spanish) has developed a very simple and highly specific coding system for structural chromosomal alterations. Such a coding system would be of value at present due to the dramatic increase in the diagnosis of submicroscopic chromosomal deletions and duplications through molecular techniques. In summary, our new coding system allows the characterization of: (a) the type of structural anomaly; (b) the chromosome affected; (c) if the alteration affects the short or/and the long arm, and (d) if it is a non-pure dicentric, a non-pure isochromosome, or if it affects several chromosomes. We show the distribution of 276 newborn patients with these types of chromosomal alterations using their corresponding codes according to our system. We consider that our approach may be useful not only for other registries, but also for laboratories performing these studies to store their results on case series. Therefore, the aim of this article is to describe this coding system and to offer the opportunity for this coding to be applied by others. Moreover, as this is a SYSTEM, rather than a fixed code, it can be implemented with the necessary modifications to include the specific objectives of each program. © 2013 Wiley Periodicals, Inc.

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