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
We report a case of a reciprocal translocation between the long arms of the 2 and 10 chromosomes observed in a 14-year-old male with mild mental impairment, compulsive and obsessive behavior. The apparently balanced translocation was characterized by fluorescence in situ hybridization and the karyotype was 46, XY, t(2;10)(q24;q22). The way by balanced chromosomal translocations can lead to a disease phenotype are reviewed and discussed.