The double aneuploidy or two chromosomal abnormalities occurring in an individual are relatively uncommon. It mainly arises due to non-disjunction at either first or second meiotic division. The double aneuploidy 48, XXY, +21 was described for the 1st time in 1959, and the incidence is reported to be 0.4–0.9/10,000 male births. Chromosomal abnormalities are seen in 1–2% of live births. We report a case of newborn with the clinical features of Down’s syndrome, the most common aneuploidy and genetic cause of moderate intellectual disability. Cytogenetic analysis showed karyotype of 48, XYY, + 21. Our case had double aneuploidy (48,XYY, +21) with congenital heart disease and hypothyroidism.

Background: Neonatal Jaundice is the most common morbidity in the first week of life, occurring in 60% of term and 80% of preterm newborn. However, visual inspection, being subjective, usually inaccurate and unreliable and will result in a number of unnecessary blood sampling. Taking all these in to considerations, transcutaneous bilirubinometer (TCB) may provide a solution which is an objective, noninvasive, fast and painless method of bilirubin estimation.Methods: Transcutaneous bilirubinometer levels were measured at forehead and sternum and blood samples for TSB were collected by venepuncture within 30 minutes and sent to biochemistry lab. After getting serum bilirubin reports, TCB and TSB values were compared by using Bhutani’s hour specific nomogram. Results: The correlation between serum bilirubin and transcutaneous bilirubin measured at forehead and sternum is very good at serum bilirubin <15 mg/dl, r value (Karl Pearson’s Correlation co-efficient) is 0.93 and 0.94 respectively.Conclusions: The findings of the present study indicate that the TCB is a reliable screening tool for hyperbilirubinemia in newborns >35 weeks of gestation, especially with bilirubin levels ≤15 mg/dl in 2-7 days of life. TCB can be a viable option for universal screening. Incorporating the use of TCB devices in clinical practice, can reduce the need for blood sampling for the management of neonatal jaundice.