Double aortic arch with double aneuploidy--rare anomaly in combined Down and Klinefelter syndrome

European Journal of Pediatrics
Maaike F GerretsenJaroslav Hruda

Abstract

A 14-month-old boy with double aneuploidy and a double aortic arch suffered from frequently recurrent severe feeding and respiratory problems. Chromosomal analysis showed a 48,XXY + 21 karyotype: a double aneuploidy of Down syndrome (DS) and Klinefelter syndrome (KS). Only four cases of double aneuploidy (DS + KS) associated with congenital heart defects have been published of which none had a double aortic arch. Our case report should draw attention to the possibility of a double aortic arch in patients with severe feeding and respiratory problems and a double aneuploidy.

References

Jan 1, 1987·Pediatric Cardiology·I AdatiaJ Harder
Jan 1, 1974·Clinical Genetics·D EfinskiS Darkovski
Sep 1, 1971·Journal of Medical Genetics·B ErdtmannF M Salzano
Dec 8, 1998·American Journal of Medical Genetics·S B FreemanD M Saker
Jan 25, 2005·European Journal of Pediatrics·Alastair TurnerJonathan Coutts
Jan 27, 2005·American Journal of Obstetrics and Gynecology·Rabih ChaouiRainer Bollmann
Feb 11, 2005·American Journal of Medical Genetics. Part a·Natalia V Kovaleva, David E Mutton
Sep 27, 2006·Pediatrics·Khalfan AlsenaidiBrian W McCrindle
Jan 2, 2008·Pediatrics·Arin K GreeneJohn B Mulliken
Jan 4, 2008·European Journal of Pediatrics·Marcus T R RoofthooftRolf M F Berger

❮ Previous
Next ❯

Citations

Sep 23, 2014·Journal of the American Society of Echocardiography : Official Publication of the American Society of Echocardiography·Yaron RazonEinat Birk
Jan 13, 2021·Pediatric Pulmonology·M Matthijs FockensFrederik G Dikkers

❮ Previous
Next ❯

Methods Mentioned

BETA
X-ray

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

Related Papers

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology
S-J YooJ Smallhorn
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology
C BergU Gembruch
© 2021 Meta ULC. All rights reserved