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Case Reports in Perinatal Medicine

Official Journal of the World Association of Perinatal Medicine

Editor-in-Chief: Dudenhausen, Joachim W.

Editorial Board Member: Niklas, Victoria / Chappelle, Joseph / Aslam, Muhammad / Bancalari, Eduardo / Bergmann, Rainer / Bernardes, J.F. / Cabero Roura, Luis / Carbonell-Estrany, Xavier / Carrera, Jose M. / Chervenak, Frank A. / D`Addario, Vincenzo / Genc, Mehmet R. / Milner, Anne / Grunebaum, Amos / Hentschel, Roland / Holzgreve, Wolfgang / Kurjak M.D., Asim / Lee, Ben H. / Lockwood, Charles J. / Marsal, Karel / Martinez, Chairman, Jorge Cesar / Ogata, Edward / Papp, Zoltán / Pejaver, Ranjan Kumar / Pooh, Ritsuko K. / Schenker, Joseph G. / Sen, Cihat / Seri, Istvan / Skupski, Daniel W. / Vetter, Klaus / Winn, Hung N. / Young, Bruce K. / Zimmermann, Roland / D'Alton, MD, Mary E. / Keirse, Marc J.N.C. / Blickstein, Isaac

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Trisomy 13 with anorectal malformation: an association or an incidental finding?

Puneet Kumar Arora
  • Corresponding author
  • Homerton University Hospital NHS Trust, London, UK
  • Email:
/ Sindhu Mohandas
  • Queens Hospital, Essex, UK
/ Narendra Aladangady
  • Homerton University Hospital NHS Trust, London, UK
  • Barts and The London School of Medicine and Dentistry, London, UK
Published Online: 2013-06-29 | DOI: https://doi.org/10.1515/crpm-2012-0078

Abstract

This report describes a baby with trisomy 13 (Patau syndrome) with imperforate anus. It is very unusual for Patau syndrome to be associated with anorectal malformation. In the English medical literature, there are only four reported cases of trisomy13 being associated with imperforate anus: a partial trisomy of chromosome 13q and 20p [Nagai et al. Currarino triad (anorectal malformation, sacral bony abnormality and presacral mass) with partial trisomy of chromosomes 13q and 20p. Clin Genet. 1994;45:272–3.], a mosaic form [46,XX,t(13q13q)/46,XX,–13,+r(13)] (Jalal et al. Unusual mosaic trisomy 13 through 13/13 translocation and monosomy 13 with a small ring. Ann Genet. 1990;33:173–5.) of trisomy 13, a third case in which the form of trisomy 13 was not described (Cho et al. One hundred three consecutive patients with anorectal malformations and their associated anomalies. Arch Pediatr Adolesc Med. 2001;155:587–91.) and a fourth case of trisomy 13 with a Robertsonian translocation of the extra chromosome 13 to chromosome 14 (Lewis and Lander. Trisomy 13 is associated with anorectal malformations. Arch Dis Child. 2007;92:185.).

Keywords: Anorectal malformation; imperforate anus; Patau’s syndrome

References

  • [1]

    Cho S, Moore SP, Fangman T. One hundred three consecutive patients with anorectal malformations and their associated anomalies. Arch Pediatr Adolesc Med. 2001;155:587–91.

  • [2]

    Endo M, Hayashi A, Ishihara M, Maie M, Nagasaki A, Nishi T, et al. Analysis of 1,992 patients with anorectal malformations over the past two decades in Japan. Steering Committee of Japanese Study Group of Anorectal Anomalies. J Pediatr Surg. 1999;34:435–41.

  • [3]

    Jalal SM, Martin JA, Benjamin TR, Kukolich MK, Townsend-Parcham JK. Unusual mosaic trisomy 13 through 13/13 translocation and monosomy 13 with a small ring. Ann Genet. 1990;33:173–5.

  • [4]

    Lewis NA, Lander AD. Trisomy 13 is associated with anorectal malformation. Arch Dis Child. 2007;92:185.

  • [5]

    Nagai T, Katoh R, Hasegawa T, Ohashi H, Fukushima Y. Currarino triad (anorectal malformation, sacral bony abnormality and presacral mass) with partial trisomy of chromosomes 13q and 20p. Clin Genet. 1994;45:272–3.

About the article

Corresponding author: Dr Puneet Kumar Arora, Homerton University Hospital NHS Trust, London, UK


Received: 2012-11-16

Accepted: 2013-05-31

Published Online: 2013-06-29

Published in Print: 2013-07-01


The authors stated that there are no conflicts of interest regarding the publication of this article.


Citation Information: Case Reports in Perinatal Medicine, ISSN (Online) 2192-8959, ISSN (Print) 2192-8932, DOI: https://doi.org/10.1515/crpm-2012-0078. Export Citation

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