Ring chromosome 13 in an infant with microcephaly

Authors

  • Deysi Licourt Otero Centro Provincial de Genética Médica. Pinar del Río.
  • Anitery Travieso Téllez Centro Provincial de Genética Médica. Pinar del Río.
  • María del Carmen Mitjans Torres Centro Provincial de Genética Médica. Pinar del Río.
  • Sahily Miñoso Pérez Centro Provincial de Genética Médica. Pinar del Río.
  • Zonia Toledo Toledo Centro Provincial de Genética Médica. Pinar del Río.

Keywords:

CHROMOSOME ABERRATIONS, PAIR 13 HUMAN CHROMOSOMES, MICROCEPHALY, CHROMOSOME DELETION.

Abstract

Ring chromosome 13 is a structural chromosomal abnormality, which is characterized by the breaking of the terminal regions of both arms and the fusion of them. A case is presented with microcephaly; which etiology is due to ring chromosome 13. A review of 12 bibliographic citations was made in the database of Pubmed, OMIM, among others, during the period between January and May 2017, it was based on the clinical and genetic characteristics of the entity. To perform the etiological diagnosis, dysmorphological and complementary tests were performed, including the cytogenetic study in peripheral blood, by banding Giemsa with a resolution between 450 and 550 bands, observing the number and structure of chromosomes in more than 8 metaphases under a microscope. Clinically, this chromosomal abnormality was characterized by the presence of microcephaly and other associated dysmorphic signs in the skull and face. The genetic etiology given by a structural chromosomal abnormality, specifically chromosome 13 in the form of a ring, was described. Knowledge of this rare entity is important to guarantee the early diagnosis so as to lead to a better quality of life and to avoid the sequelae it provokes.

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Author Biographies

Deysi Licourt Otero, Centro Provincial de Genética Médica. Pinar del Río.

Máster en Atención Integral al niño. Especialista de primer grado en MGI y Genética Clínica y segundo grado en Genética Clínica.  Profesora e Investigadora Auxiliar.

Anitery Travieso Téllez, Centro Provincial de Genética Médica. Pinar del Río.

Especialista de Segundo Grado en  Genética Clínica. Profesora Asistente e Investigadora Agregada.

María del Carmen Mitjans Torres, Centro Provincial de Genética Médica. Pinar del Río.

Licenciada en Química. Especialista en Citogenética. Aspirante a investigador.

Sahily Miñoso Pérez, Centro Provincial de Genética Médica. Pinar del Río.

Licenciada en Biología. Especialista en Citogenética. Profesora Asistente e Investigadora Agregada

Zonia Toledo Toledo, Centro Provincial de Genética Médica. Pinar del Río.

Licenciada en Biología. Profesora Asistente.

References

1. Minasi LB, Pinto IP, de Almeida JG, de Melo AV, Cunha DMC, Ribeiro CL, et al. Postnatal diagnosis of constitutive ring chromosome 13 using both conventional and molecular cytogenetic approaches. Genetics and Molecular Research. [Internet]. 2015[Citado en Enero de 2017]; 14: 11692-1699Disponible en:http://www.funpecrp.com.br/gmr/year2015/vol14-1/pdf/gmr4981.pdf

2. Rea González ME, Lantigua Cruz A, Méndez Rosado LA. Correlación cariotipo - fenotipo en un paciente con síndrome cromosoma 13 en anillo. Rev Cubana Genet Comunit.[Internet]. 2014 [Citado en Enero de 2017]; 8(3): 32-39 Disponible en:http://www.medigraphic.com/pdfs/revcubgencom/cgc-2014/cgc143g.pdf

3. Gene map- Chromosome 13 [Internet].Disponible en:http://omim.org/search/?index=geneMap&search=13

4. Sankar VH, Shubha R. Ring Chromosome 13 in an Infant with Ambiguous Genitalia. Indian Pediatrics.[Internet]. 2006 [Citado en Enero de 2017];43(17): 258-260. Disponible en:http://medind.nic.in/ibv/t06/i3/ibvt06i3p258.pdf

5. Ozsu E, Yesiltepe Mutlu G, Ipekci B. Ring Chromosome 13 and Ambiguous Genitalia. J Clin Res Pediatr Endocrinol. [Internet]. 2014 [Citado en Enero de 2017]; 6(2): 122-124. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4141575/

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7. Suárez Ayala D, Del Castillo G, Velasco Y. Cromosoma 13 en anillo, reporte de caso. Pediatría.[Internet]. 2016[Citado en Abril de 2017]; 49(1): 31-35. Disponible en: https://ac.els-cdn.com/S0120491216000161/1-s2.0-S0120491216000161-main.pdf?_tid=3825cc5c-c093-11e7-81a1-00000aacb35e&acdnat=1509712599_b238ab0d3b63e76b3d9d105516d497a3

8. Chromosome 13q14 Deletion Syndrome. OMIM#613884. On line mendelian inheritance in man: [Citado en Marzo de 2017] Disponible en: https://www.omim.org/entry/613884.

9. Wang YP, Wang DJ, Niu ZB Cui WT . Chromosome 13q deletion syndrome involving 13q31-qter: A case report. Mol Med Rep.[Internet].2017 [Citado en Abril de 2017]; 15(6): 3658-3664. Disponible en: https://www.spandidos-publications.com/mmr/15/6/3658?text=fulltext

10. Quelin C, Spaggiari E, Savatovsky SK, Dupont C, Pasquier L, et al. Inversion Duplication Deletions Involving the Long Arm of Chromosome 13: Phenotypic Description of Additional Three Fetuses and Genotype–Phenotype Correlation. Am J Med Genet Part A [Internet].2014 [Citado en Abril de 2017];164(10): 2504-2509 Disponible en:http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.36658/pdf

11. Abdallah-Bouhjar IB, Mougou-Zerelli S, Hannachi H, Gmidene A, Labalme A, Soyah N et al. Molecular cytogenetic and phenotypic characterization of ring chromosome 13 in three unrelated patients. Journal of Pediatric Genetics 2 [Internet].2013 [Citado en Septiembre de 2017]: 147-155 Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5020974/pdf/10-3233-PGE-13063.pdf

12. Kaylor J, Alfaro M, Ishwar A, Sailey C, Sawyer J, Zarate Y.A. Molecular and Cytogenetic Evaluation of a Patient with Ring Chromosome 13 and Discordant Results. Cytogenet Genome Res[Internet].2014 [Citado en Abril de 2017];144: 104-108 Disponible en:https://www.karger.com/Article/FullText/368649

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Published

2017-12-28

How to Cite

1.
Licourt Otero D, Travieso Téllez A, Mitjans Torres M del C, Miñoso Pérez S, Toledo Toledo Z. Ring chromosome 13 in an infant with microcephaly. Rev Ciencias Médicas [Internet]. 2017 Dec. 28 [cited 2025 Sep. 20];22(1):192-7. Available from: https://revcmpinar.sld.cu/index.php/publicaciones/article/view/3319

Issue

Vol. 22 No. 1 (2018)

Section

CASE REPORTS

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