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Human Genetics   Case Reports

Down-Klinefelter syndrome (48,XXY,+21) in a neonate associated with congenital heart disease

Authors: M.A. Rodrigues, L.F. Morgade, L.F.A. Dias, R.V. Moreira, P.D. Maia, A.F.H. Sales and P.D. Ribeiro

Double aneuploidy is considered a rare phenomenon. Herein, we describe a case of double aneuploidy 48,XXY,+21 in a neonate with congenital heart defects. The 28-day-old neonate male (23-year-old mother and 24-year-old father) was admitted to a neonatal intensive care unit owing to congenital heart disease. Echocardiography sho.. Read More»

Genet. Mol. Res. 16(3):
gmr16039780
DOI:
10.4238/gmr16039780