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Authors

Introduction:

Mosaic trisomy 8 or "Warkany's Syndrome" is a chromosomopathy with an estimated prevalance of 1:25,000 to 1:50,000, whose clinical presentation has a wide phenotypic variability.

Case Description:

Patient aged 14 years old with antecedents of global retardation of development, moderate cognitive deficit and hypothyroidism of possible congenital origin.

Clinical Findings:

Physical examination revealed palpebral ptosis, small corneas and corectopia, hypoplasia of the upper maxilla and prognathism, dental crowding, high-arched palate, anomalies of the extremities such as digitalization of the thumbs, clinodactyly and bilateral shortening of the fifth finger, shortening of the right femur, columnar deviation and linear brown blotches that followed Blaschko's lines. Cerebral nuclear magnetic resonance revealed type 1 Chiari's malformation and ventriculomegaly. Although the karyotype was normal in peripheral blood (46,XY), based on the finding of cutaneous mosaicism the lesions were biopsied and cytogenetic analysis demonstrated mosaic trisomy 8: mos 47,XY,+8[7]/46,XY[93].

Clinical Relevance:

Trisomy 8 is clinically presented as a mosaic, universal cases being unfailingly lethal. In this particular case, cutaneous lesions identified the mosaic in tissue, although the karyotype was normal in peripheral blood. The cutaneous mosaicism represented by brown linear blotches which follow Blaschko's lines is a clinical finding that has not previously been described in Warkany's syndrome.

Gustavo Adolfo Giraldo Ospina, Médico Especialista en Genética Médica en la Clínica Universitaria Bolivariana, Universidad Pontificia Bolivariana.

Médico Especialista en Genética Médica de la Pontificia Universidad Javeriana. Actualmente me desempeño como Médico Especialista en Genética Médica en la Clínica Universitaria Bolivariana, y de docente auxiliar en la Universidad Pontificia Bolivariana.

Ana Milena Gómez Camacho, PontificiaUniversidad Javeriana

Médica Especialista en Genética Médica de la PontificiaUniversidad Javeriana. Actualmente realizando fellowship en Oncogenética en A.C.Camargo CancerCenter - Sao Paulo, Brasil.

Lina Maria Mora Barreto, Médica Especialista en Genética Médica en el Hospital Universitario San Ignacio. Profesora intructor, Instituto de Genética Humana, Facultad de Medicina, Pontificia universidad Javeriana

Médica Especialista en Genética Médica de la Pontificia Universidad Javeriana. Actualmente se desempeña como Médica Especialista en Genética Médica en el Hospital Universitario San Ignacio. Docente instructor en la Pontificia Universidad Javeriana

Fernando Suarez Obando, Médico Especialista en Genética Médica en el Hospital Universitario San Ignacio. Profesor asistente, Instituto de Genética Humana, Facultad de Medicina, Pontificia universidad Javeriana

Médico Especialista en Genética Médica y en Bioética de la Pontificia Universidad Javeriana. Magister en Epidemiología Clínica de la PUJ, Magister en Biomedical Informatics de la universidad de Pittsburgh. Actualmente candidato a Doctorado de la PUJ.

Olga María Moreno Niño, Profesora asistente, Instituto de Genética Humana, Facultad de Medicina, Pontificia universidad Javeriana

Bióloga de la Universidad Nacional de Colombia, maestría en Biología con énfasis en Genética de la Universidad Javeriana y candidata al título de doctora en Ciencias Biológicas en el programa de posgrado de la Facultad de Ciencias de la Pontificia Universidad Javeriana. Profesora Asistente. Experiencia en docencia en pregrado y posgrado.
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Received 2016-03-07
Accepted 2016-06-02
Published 2024-06-07