Double aneuploidy 48,XXY,+21 in a fetus with congenital abnormalities. Der Pharmacia Lettre, 2014, 6 (3):351-354.

The concurrent occurrence of double aneuploidy in the same individual is a relatively rare phenomenon. Previous studies indicate double trisomies were found in recurrent miscarriages and abortions. Presently, we report on an aborted fetal blood sample of 20 weeks gestation. The fetal summary was given as dilated lateral ventricles, dilated aqueductal stenosis and strong possibility of agenesis of corpus callosum and hydrocephalus. To confirm, whether the abnormality is inherited or de novo, we have done cytogenetic analysis on both parents.Fluorescence in situ hybridization (FISH) technique was used with LSI21 and DYZ3 alpha satellite and CEP X alpha satellite probes to confirm the cytogenetic result and to clarify the non-mosaic status of Down syndrome and the coexistence of Klinefelter syndrome. The XXY constitution may have contributed to the development of normal height and absence of microphthalmia in this patient with trisomy 21.Etiological predisposing factor for 48,XXY,+21 is not known. It is difficult to determine the incidence, phenotypic properties, and recurrence risk of 48,XXY,+21. Upto our knowledge, this is the first case of fetal sample with Down syndrome together with Klinefelter syndrome in India. The literature regarding double aneuploidy, which combines both autosome and sex chromosome aberrations, was also reviewed

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