The Principles of Clinical Cytogenetics - Extra Materials - Springer

Prenatal Cytogenetics 293
Table 11
Cardiovascular Abnormalities in Children wth 22q11.2 Deletion in Atlanta Study, 1994–1999
Table 12
Clinical Findings Amenable to Ultrasound Detection That Are Consistent with 22q11.2 Deletion
Finding No. % One in
Any major diagnostic finding
Cardiovascular
43 100
Heart and great arteries 35 81 1.2
Vascular (branch arteries and great veins) 22 51 2.0
Spina bifida 2 4.7 22
Brainstem anomaly 1 2.3 43
Communicating hydrocephalus 1 2.3 43
Eventration of diaphragm 1 2.3 43
Thoracic hemivertebrae 2 4.7 22
Rib abnormalities 1 2.3 43
Polydactyly of hands 1 2.3 43
Hydronephrosis 3 7.0 14
Renal atrophy 1 2.3 43
Renal cysts 1 2.3 43
Source: Data from ref. (157).
Total % of
Finding No. % a total b
Cardiac abnormalities c 35 100 81
Interrupted aortic arch type B 8 23 19
Truncus arteriosus 4 11 19
Tetralogy of Fallot and variants 15 43 35
Pulmonary atresia with VSD 6 17 14
Tetralogy of Fallot, absent pulmonary valve 3 9 7
Tetralogy of Fallot, simple 6 17 14
D-Transposition of great arteries 1 3 2
Valve pulmonic stenosis, apical VSDs 1 3 2
Ventricular septal defect 7 20 16
Vascular abnormalities 22 63 51
Right aortic arch 15 43 35
Mirror image of brachiocephalic vessels 5 14 12
Vascular ring 2 6 5
Aberrant origin subclavian artery 7 20 16
Left superior vena cava 4 11 9
Abbreviations: VSD = ventricular septal defect; ASD = atrial septal defect.
a Percentage among children with 22q11.2 deletion and cardiovascular findings (n = 35).
b Percentage among all children with 22q11.2 deletion (n = 43).
c One child had interrupted aortic arch and truncus arteriosus.
Source: Data from ref. 157.
heart abnormalities, as shown in Table 11. What the investigators found was that about one of every
two cases of interrupted aortic arch, one of every five cases of truncus arteriosus, and one of every
eight cases of TOF in the population were the result of the deletion. See Tables 11 and 12 for a listing
of the data from this study.