Differential diagnosis of pseudotrisomy 13 syndrome

  1. Danízar Vásquez Carlón 1
  2. Margarita Álvarez de la Rosa Rodríguez 1
  3. Ana I. Padilla Pérez 1
  4. Ingrid Martínez Wallin 1
  5. Juan M. Troyano Luque 1
  1. 1 Universidad de La Laguna
    info

    Universidad de La Laguna

    San Cristobal de La Laguna, España

    ROR https://ror.org/01r9z8p25

Revista:
Case Reports in Perinatal Medicine

ISSN: 2192-8959 2192-8932

Año de publicación: 2012

Volumen: 1

Número: 1-2

Tipo: Artículo

DOI: 10.1515/CRPM-2012-0039 GOOGLE SCHOLAR lock_openAcceso abierto editor

Otras publicaciones en: Case Reports in Perinatal Medicine

Resumen

: Pseudotrisomy 13 syndrome is determined bythe combination of three findings: holoprosencephaly,postaxial polydactyly, and a normal karyotype. We reporttwo cases of a prenatal diagnosis of pseudotrisomy 13syndrome and one case of a suspected hydrolethalus syndrome, another disorder with a similar phenotype andkaryotype. Thorough literature search yields limited information, and the genetic cause of this syndrome remainsunclear; however, it is thought to be monogenic andinherited as an autosomal recessive disorder. Given thepoor prognosis and the easily recognizable malformationsassociated with this disease, it is important to perform anearly diagnosis.

Referencias bibliográficas

  • Cordero DR, Bendavid C, Shanske AL, Haddad BR, Muenke M. Holoprosencephaly-polydactyly syndrome: in search of an etiology. Eur J Med Genet. 2008;51:106 – 12.
  • Dincsoy MY, Salih MA, al-Jurayyan N, al Saadi M, Patel PJ. Multiple congenital malformations in two sibs reminiscent of hydrolethalus and pseudotrisomy 13 syndromes. Am J Med Genet. 1995;56:317 – 21.
  • Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V. Holoprosencephaly. Orphanet J Rare Dis. 2007; 2:8.
  • Hewitt BG, Seller MJ, Bennett CP, Maxwell DM. Holoprosencephaly, polydactyly and normal chromosomes: pseudo-trisomy 13? Clin Genet. 1989;36:141 – 3.
  • Koolen DA, Herbergs J, Veltman JA, Pfundt R, van Bokhoven H, Stroink H, et al. Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1. J Hum Genet. 2006;51:721 – 6.
  • Marquis-Nicholson R, Aftimos S, Ashton F, Love JM, Stone P, McFarlane J, et al. Pseudotrisomy 13 syndrome: use of homozygosity mapping to target candidate genes. Gene. 2011;486:37 – 40.
  • Schulz S, Gerloff C, Kalinski T, Mawrin C, Kanakis D, Haas D, et al. Pseudotrisomy 13: clinical findings and genetic implications. Fetal Diagn Ther. 2005;20:501 – 3.
  • Verloes A, Ayme S, Gambarelli D, Gonzales M, Le Merrer M, Mulliez N, et al. Holoprosencephaly-polydactyly ( ‘ pseudotrisomy 13 ’ ) syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study. J Med Genet. 1991;28:297 – 303.