Abstract for presentation at 11th International Congress of Human Genetics

Translocation (3;13)(p26-q11): A case report

  • Ilian García-González, Instituto de Genética Humana, Departamento de Biología Molecular y Genómica, CUCS, Universidad de Guadalajara, Sierra Mojada 95, Mexico
  • Dr Melva Gutiérrez-Angulo, Instituto de Genética Humana, Departamento de Biología Molecular y Genómica, CUCS, Universidad de Guadalajara, Sierra Mojada 95, Mexico
  • Dr Viviana Mesa-Cornejo, Instituto de Genética Humana, Departamento de Biología Molecular y Genómica, CUCS, Universidad de Guadalajara, Sierra Mojada 95, Mexico
  • Dr María López-Cardona, Instituto de Genética Humana, Departamento de Biología Molecular y Genómica, CUCS, Universidad de Guadalajara, Sierra Mojada 95, Mexico
  • Dr Nory Dávalos-Rodríguez, Instituto de Genética Humana, Departamento de Biología Molecular y Genómica, CUCS, Universidad de Guadalajara, Sierra Mojada 95, Mexico

    • Introduction: Since 1975 that Schwanitz et. al. reported a 4 years old girl with karyotype 45, XX, del 13 (pter yields q12), whose father showed a balanced translocation 3;13 [karyotype: 46, XY, t(3;13)(p27;q12)], the literature do not report another translocation between 3;13 chromosomes that involved p26;q11 regions. Objective: We reports a 5 years-old masculine patient, who present a congenital abnormalities with a karyotype of 45, XY, t(3;13)(p26;q11).
    Case Report: The propositus is product of the 2nd pregnancy of young patients non-consanguineous, which present a normal karyotype. He showed psychomotor and language delayed, short stature, microcephaly and plagiocephaly, right preauricular appendix, dysplasic ear, flat frontal, antimongoloid palpebral fisures of the eyes, cleft lip, posterior cleft palate, bifid uvula, conics teeth, In hands showed brachysyndactyly in all fingers bilateral clinodactyly in 5th fingers and hallux valgus. He also presents hypoacusis, with complete structures in the middle and internal ears, but otoacustic emissions are diminished in a 99%. The radiological examination reveled delay osseous development and left kidney hypoplasic with normal function.
    Discussion: At the comparation between the two patients we found some similarities, that are abnormalities at cephalic level, limbs alterations, antimongoloids palpebral fisures, that could be characteristics in patients that involved translocations of these chromosomes.

    Conference Organiser - ICMS Pty Ltd