Learn More
The fragile X syndrome (FXS) is the main cause of hereditary mental retardation. Although a lower frequency has been demonstrated in latest population studies, FXS constitutes the most frequent cause of hereditary mental retardation. FXS was historically diagnosed, firstly, only in clinically affected patients, but it was not possible to detect carriers(More)
AIM To characterize clinicopathological and familial features of early-onset colorectal cancer (CRC) and compare features of tumors with and without microsatellite instability (MSI). METHODS Forty-five patients with CRC aged 45 or younger were included in the study. Clinical information, a three-generation family history, and tumor samples were obtained.(More)
We have characterized the molecular changes underlying the transformation of a JAK2V617F+-myelofibrosis with trisomy 8, into a JAK2V617F-negative leukemia. Leukemic clone did not carry JAK2V617F mutation, but showed ASXL1 mutation (R693X). This mutation was identified in a low percentage at diagnosis by next-generation sequencing. Using this technology in(More)
INTRODUCTION Cytomegalovirus retinitis (CMV) is the most frequently found opportunistic eye infection in adults with AIDS, with mean incidence of 20%-50%. However, only 5% of children with AIDS have this infection. CLINICAL CASE We present the case of a six year old girl with stage C3 AIDS diagnosed at the age of 20 months, who developed unilateral(More)
  • 1