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Chromosomes allnone

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CHDs allnone

1st degree AV block
ASD
ASD within oval fossa (secundum)
AV and/or VA connections abnormal
AVSD AV valvar abnormality
AVSD with ventricular imbalance
AVSD: atrial & ventricular components (complete)
AVSD: isolated atrial component (primum ASD)
Aortic arch hypoplasia (tubular)
Aortic coarctation
Aortic regurgitation - congenital
Aortic sinus of Valsalva aneurysm
Aortic stenosis
Aortic valvar abnormality
Aortic valvar stenosis - congenital
Arterial duct (ductus arteriosus) abnormality
Ascending aorta abnormality
Ascending aorta dilation
Ascending aorta hypoplasia
Atrioventricular septal defect
Bicuspid aortic valve
Cardiomyopathy
Cleft lip / palate
Common arterial trunk
Common atrium (virtual absence of atrial septum)
Complete transposition of great arteries (IVS)
Congenitally corrected transposition of great arteries
Cyanotic spells
Dextrocardia: heart predominantly in R hemithorax
Diaphragmatic hernia
Dilated cardiomyopathy
Discordant VA connections (TGA)
Double chambered RV
Double outlet RV
Double outlet RV - Fallot type
Double outlet RV - transposition type
Ebstein's malformation of tricuspid valve
Functionally univentricular heart
Hypertrophic cardiomyopathy
Hypoplastic left heart syndrome
Inferior caval vein (IVC) abnormality
Interrupted aortic arch
LV hypoplasia
LV outflow tract obstruction
Left SVC persisting to coronary sinus to right-sided atrium
Mitral atresia
Mitral regurgitation
Mitral stenosis
Mitral valvar abnormality
Mitral valvar prolapse
Mitral valvar stenosis
Mitral valvar stenosis - congenital
Multiple VSDs
Muscular VSD
Partially anomalous pulmonary venous connection(s)
Patent arterial duct (PDA)
Patent foramen ovale (PFO)
Perimembranous VSD
Peripheral pulmonary arterial stenoses - at/beyond hilar bifurcation
Position or morphology of thoraco-abdominal organs abnormal
Premature ventricular complexes
Psychomotor developmental delay
Pulmonary arterial abnormality
Pulmonary arterial hypertension
Pulmonary arterial hypoplasia
Pulmonary arterial stenosis
Pulmonary atresia
Pulmonary atresia + VSD (including Fallot type)
Pulmonary atresia + VSD + 'MAPCA'(s)
Pulmonary atresia + intact ventricular septum
Pulmonary hypertension due to L to R shunt
Pulmonary stenosis
Pulmonary valvar abnormality
Pulmonary valvar stenosis
Pulmonary valvar stenosis - congenital
R aortic arch
RV hypoplasia
Right isomerism ('asplenia')
Secondary pulmonary hypertension
Sinus bradycardia
Sinus node dysfunction (sick sinus)
Sinus tachycardia
Sinus venosus ASD
Spontaneous closure of VSD
Subaortic stenosis
Subarterial VSD
Superior caval vein (SVC) abnormality
Supravalvar aortic stenosis
Supravalvar pulmonary trunk stenosis
Tetralogy of Fallot
Totally anomalous pulmonary venous connection
Tricuspid atresia
Tricuspid regurgitation
Tricuspid valvar abnormality
Tricuspid valvar dysplasia (mucoid thickening)
VSD
Vascular ring
Ventricular imbalance: dominant LV + hypoplastic RV
Ventricular imbalance: dominant RV + hypoplastic LV

Tracks

genes
sub-microscopic deletions
sub-microscopic amplifications
translocation breakpoints
linkage regions
Van Karnebeek and Hennekam 1999

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Map legend.

Map: The map provides a karyogram with all regions and genes annotated in the Wiki.
Simply click on a feature to be redirected to the corresponding pasge.

Hot loci

• 1p36.3: various deletions and CHDs and no gene
• 4q33-35: deletions and translocations
• 6q21: deletions and translocations
• 15q26: deletions and translocations
• 17q21.31: deletions
• 22q12: deletions

Regions containing associated genes

• 1q42: LBR gene weakly associated to syndromic VSD has overlap with Van Karnebeek region
• 3p25: CRELD1 gene associated to AVSD included in regions from patients exhibiting ASD and VSD
• 5q35: NKX2.5
• 5q35: NSD1 associated to syndromic ASD.