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 d...

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Bibliographic Details
Published in:Genetics and molecular research 2017-09, Vol.16 (3), p.1
Main Authors: Rodrigues, M A, Morgade, L F, Dias, L F A, Moreira, R V, Maia, P D, Sales, A F H, Ribeiro, P D
Format: Article
Language:English
Subjects:
Aneuploidy
Cardiovascular disease
Children
Congenital diseases
Coronary artery disease
Down syndrome
Down Syndrome - complications
Down Syndrome - diagnosis
Down Syndrome - genetics
Down's syndrome
Echocardiography
Heart
Heart Defects, Congenital - complications
Heart Defects, Congenital - diagnosis
Heart Defects, Congenital - genetics
Heart diseases
Heart surgery
Humans
Infant
Karyotype
Klinefelter Syndrome - complications
Klinefelter Syndrome - diagnosis
Klinefelter Syndrome - genetics
Klinefelter's syndrome
Male
Neonates
Regurgitation
Rheumatic heart disease
Ventricle
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Summary: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 defect with Rastelli type B and significant left ventricular failure, moderate atrioventricular valve regurgitation, right-sided heart failure, and preserved systolic function. Cytogenetic analysis of the newborn showed double aneuploidy 48,XXY,+21. The maternal karyotype was 46,XX,inv(9)(p11q13) and the paternal was 46,XY. Characteristics associated with Down syndrome are observed in newborns; on the other hand, children under 10 months of age and neonates may show little or no signs of the Klinefelter syndrome. According to this study, there seem to be differences between the frequency of congenital heart disease among patients with Down-Klinefelter and Down syndrome. At about 11 months of age, the child died after undergoing heart surgeries. The early cytogenetic study is important for better diagnosis and management of the disease.
ISSN:1676-5680
DOI:10.4238/gmr16039780