the first case of double aneuploidy of down syndrome ( ds ) combined with klinefelter syndrome ( ks ) was published in 1959 by ford et al . .
most of the papers published since then were focused to more extent on the double aneuploidy itself than on the clinical features of the patients .
pediatric cardiologists are familiar with screening of babies with ds for congenital heart defects ( chd ) , expecting in approximately 50% to find a heart defect , typically atrioventricular septal defect [ 9 , 13 ] . however , in children diagnosed with ks , a chd has only rarely been reported [ 1 , 13 , 15 ]
we report on a child with ds and ks associated with a double aortic arch .
a 14-month - old boy was admitted to our department after frequent admissions in other hospitals because of recurrent severe feeding and respiratory problems .
his weight was 7.6  kg , height 78  cm , blood pressure 90/75  mmhg , moderate psychomotor retardation was present .
he was born following an uneventful pregnancy with a birth weight of 2,560  g. the mother was 36  years old .
1 ) suggesting down syndrome revealed a 48,xxy + 21 karyotype : a double aneuploidy of down syndrome and klinefelter syndrome .
echocardiography , bronchoscopy and ct thorax performed in another centre demonstrated a small atrial septal defect ( secundum type ) and narrowing of the trachea from its middle to the carina .
the x - ray of the small bowel was normal ; barium swallow was then not performed .
the boy had to be fed by a tube and later exclusively via a percutaneous endoscopical gastrostomy .
after extubation , the patient suffered repeatedly from severe respiratory distress in the course of intercurrent infections . 

1facial dysmorphic features in a child with double aneuploidy  down syndrome and klinefelter syndrome ( with the permission of the parents ) facial dysmorphic features in a child with double aneuploidy 
down syndrome and klinefelter syndrome ( with the permission of the parents ) this clinical picture accompanied by findings of a topical trachea and possibly also an oesophageal obstruction led to a suspicion of a vascular airway compression . a new echocardiography and a new ct of the thorax with contrast ( siemens somatom sensation 64-slice , contrast 25  ml omnipaque 300 intravenous ) demonstrated a double aortic arch ( fig .  2 ) , compressing both trachea and oesophagus .
the anterior left arch appeared smaller with a localised narrowing , as compared to the posterior right arch .
posterior indentation of the oesophagus ( arrow ) using a median sternotomy approach , the left anterior aortic arch was divided at the smallest point between the left carotid and subclavian artery .
it was decided not to proceed with open heart surgery in order to close the small centrally located atrial septal defect , because if still necessary , it can later be closed percutaneously .
the postoperative course was complicated by a wound infection and pleural empyema for which he needed surgical treatment .
double aneuploidy , the existence of two chromosomal abnormalities in the same person , is relatively rare .
it can involve both autosomal ( chromosome 13 , 18 or 21 ) and sex chromosomes   and each may manifest either as a monosomy or trisomy or even tetra- or pentasomy .
kovaleva and mutton   have reported that 0.098% of the children with ds also have ks .
only four case reports on chd in these patients have been published [ 2 , 6 , 7 , 11 ] , but none had a double aortic arch .
however , an obvious relationship between this syndrome and chd has not been documented , with exception of several case reports [ 1 , 15 ] .
in contrast , down syndrome alone is well known for cardiac anomalies , occurring in 40% to 50% of patients .
freeman   reported a 44% incidence of chd in a group of 227 infants with ds , of which 45% are atrioventricular , 35% are ventricular and 8% had an isolated atrial septal defect .
the resting 12% of other anomalies did not include any infant with a vascular ring . as a matter of fact
, an aberrant origin of the subclavian artery ( arteria lusoria ) seems to be found more and more frequently in children with ds , so that it has even been proposed to consider it as a new cardiac sign for ds . in most of them , however , this should be only an incidental finding , not responsible for the feeding difficulties .
interestingly , in patients with ds less vascular anomalies than in general population were reported , probably because of an increase in inhibitors of vascular endothelial growth factor , whose genes are located on chromosome 21 .
double aortic arch does not belong to the spectrum of defects known to be associated with ds .
our observation should draw attention to a possible occurrence of a complete vascular ring in a young infant with clinical symptoms of recurrent respiratory and feeding problems and a ( double ) aneuploidy .
in addition to assessing intracardiac anatomy , a careful assessment of aortic arch anatomy is warranted [ 3 , 4 , 16 ] before possible breathing or swallowing difficulties may be assigned to muscular hypotony , bronchial pathology and other factors , common for patients with ( double ) aneuploidies .
 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 . 
Introduction
Case report
Discussion