@article{Giraldo Ospina_Gómez Camacho_Mora Barreto_Suarez Obando_Moreno Niño_2016, title={Mosaic trisomy 8 detected by fibroblasts cultured of skin}, volume={47}, url={https://colombiamedica.univalle.edu.co/index.php/comedica/article/view/2258}, DOI={10.25100/cm.v47i2.2258}, abstractNote={<div id="__secid305145" class="sec sec-first"><h3>Introduction:</h3><p id="__pid305148" class="p p-first-last">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.</p></div><div id="__secid305152" class="sec"><h3>Case Description:</h3><p id="__pid305155" class="p p-first-last">Patient aged 14 years old with antecedents of global retardation of development, moderate cognitive deficit and hypothyroidism of possible congenital origin.</p></div><div id="__secid305159" class="sec"><h3>Clinical Findings:</h3><p id="__pid305162" class="p p-first-last">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].</p></div><div id="__secid290714" class="sec sec-last"><h3>Clinical Relevance:</h3><p id="__pid290717" class="p p-first-last">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.</p></div>}, number={2}, journal={Colombia Medica}, author={Giraldo Ospina, Gustavo Adolfo and Gómez Camacho, Ana Milena and Mora Barreto, Lina Maria and Suarez Obando, Fernando and Moreno Niño, Olga María}, year={2016}, month={Jun.}, pages={100–4} }