CHROMOSOME 6 PARTIAL TRISOMY WITH INSERTION IN 14Q IN PATIENT WITH MENTAL RETARDATION AND DYSMORPHIC FEATURES

• Autor(a) principal: W. Maluf, Sharbel
• Data de Publicação: 2022
• Outros Autores: Pires, Ricardo, B. Trombetta, Gisele, Dorfman, Luiza, Contini, Verônica, Arruda, Luís, Riegel, Mariluce
• Tipo de documento: Artigo
• Idioma: por
• Título da fonte: Clinical and Biomedical Research
• Texto Completo: https://seer.ufrgs.br/index.php/hcpa/article/view/126173
• topic: Translocação cromossômica; inserção; retardo mental; dismorfias; Chromosome translocation; insertion; mental retardation; dysmorphias

This article presents the case of a male patient who presented mild mental retardation, clinodactyly, camptodactyly, abnormal pattern of the hand skinfolds and cleft palate. In addition to the clinical examination, conventional cytogenetic techniques with G-bands and fluorescence in situ hybridization (FISH) were used with probes WCP 14, WCP 6, and tel6p. Fif teen metaphases were analyzed through conventional cytogenetics. All cells presented additional material on chromosome 14 [46,XY,add(14)]. The patient’s mother presented karyotype 46,XX,t(6q;14q), and the patient’s father presented normal karyotype. The patient’s material was submitted to FISH technique with probe WCP 6. This procedure showed that the additional portion was originated in chromosome 6 inserted at 14q22. The subtelomeric probes 6p/q determined the four typical breakpoints. The patient’s clinical status is a consequence of a partial trisomy of chromosome 6. This additional material is inserted in chromosome 14 long arm. The chromosome originated from chromosome 14 has maternal origin.