Descrevemos o paciente HP, do sexo masculino, o qual apresentava quadro clínico de retardo mental leve, clinodactilia, camptodactilia, padrão alterado das pregas nas mãos e fenda palatina incompleta. Além do exame clínico, foram utilizadas técnicas citogenéticas convencionais com bandas G e hibridização in situ por fluorescência (FISH) com as sondas WCP 14; WCP 6; tel6p; tel6q. Foram analisadas 15 metáfases por citogenética convencional (GTG), onde todas as células apresentaram material adicional no cromossomo 14 [46,XY,add(14)]. A mãe apresentou cariótipo 46,XX,t(6q;14q) e o pai, cariótipo normal. O material do paciente foi submetido à técnica de FISH com sonda WCP 6, evidenciando a porção adicional como sendo material do cromossomo 6 inserido em 14q22. As sondas subteloméricas 6p/q marcaram os quatro pontos normalmente esperados. O paciente apresenta quadro clínico que resultou de uma trissomia parcial do cromossomo 6. Este material adicional está inserido no braço longo do cromossomo 14. O cromossomo derivado de 14 tem origem materna.This article presents the case of a male patient who presented mild mental retardation, clinodactyly, camptodactyly, abnormal pattern of the hand skinfolds and clef t 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
