RESUMEN
We report the prenatal diagnosis of an extra der(4) resulting from 4:2 malsegregation of a maternal balanced complex translocation involving chromosomes 4, 10, and 11. The woman was referred for amniocentesis because of recurrent miscarriages. Fluorescence in situ hybridization was performed in order to characterize the complex chromosome rearrangement. Following genetic counselling, the couple decided to terminate the pregnancy.
Asunto(s)
Aberraciones Cromosómicas , Cromosomas Humanos Par 4 , Diagnóstico Prenatal , Translocación Genética , Adulto , Amniocentesis , Cromosomas Humanos Par 10 , Cromosomas Humanos Par 11 , Femenino , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , EmbarazoRESUMEN
In the present work, we report on a 2.5-year-old male patient with typical clinical features of partial trisomy of the distal third of chromosome 10 long arm. The karyotype was: 46,XY, dir dup(10)(q25.2-25.3-->qter). The identification of the duplicated segment was carried out by the fluorescence in situ hybridization technique using region-specific probes. The proband's phenotype is compared with previously reported cases.