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J Pediatr Genet 2017; 06(02): 115-117
DOI: 10.1055/s-0036-1597932
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Klinefelter Syndrome in Association with Tetralogy of Fallot and Congenital Diaphragmatic Hernia

Sethuraman Swaminathan
1   Division of Pediatric Cardiology, University of Miami, Jackson Memorial Hospital, Miller School of Medicine, Miami, Florida, United States
,
Sudheer R. Gorla
1   Division of Pediatric Cardiology, University of Miami, Jackson Memorial Hospital, Miller School of Medicine, Miami, Florida, United States
,
Deborah S. Barbouth
2   Department of Human Genetics, University of Miami, Miller School of Medicine, Dr. John T. Macdonald Foundation, Miami, Florida, United States
› Author Affiliations
Further Information

Publication History

13 October 2016

30 November 2016

Publication Date:
03 January 2017 (online)

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Abstract

Klinefelter syndrome (KS) is the most common sex chromosomal aneuploidy in males. Major cardiovascular and diaphragmatic anomalies are uncommon in this syndrome. Here we report an infant with KS who had tetralogy of Fallot and congenital diaphragmatic hernia, all of which were identified prenatally and managed successfully after birth. Microarray analysis did not reveal any deletions or duplications other than the additional X-chromosome, to account for the additional abnormalities in this infant. To the authors' knowledge, this is the first such report of major cardiac and diaphragm anomaly occurring together, in an infant with KS.

Keywords

Klinefelter syndrome - tetralogy of Fallot - congenital diaphragmatic hernia
 

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