P.D. Ribeiro
Down-Klinefelter syndrome (48,XXY,+21) in a neonate associated with congenital heart disease
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 showed a complete atrioventricular septal d.. Read More»
Genet. Mol. Res. 16(3): gmr16039780
DOI: 10.4238/gmr16039780
Low-level trisomy 14 mosaicism in a male newborn with ectrodactyly
Complete trisomy 14 mosaicism is a rare chromosome disorder and was first reported in 1970. We describe a case of a male neonate who presented complete trisomy 14 mosaicism in only 4% of the cells from peripheral blood. A nineteen-day-old male neonate was born as result of the second pregnancy. The infant was delivered by cesarean section due to gestational hyperten.. Read More»
Genet. Mol. Res. 15(4): gmr15049275
DOI: 10.4238/gmr15049275
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