Article
Pulmonary atresia associated with maternal 22q11.2 deletion: possible parent of origin effect in the conotruncal anomaly face syndrome.
Journal of medical genetics - 1 Nov 1994
Seaver L H, Pierpont J W, Erickson R P, Donnerstein R L, Cassidy S B
Abstract excerpt
A blind study was designed to test the hypothesis that some persons with a relatively rare cardiac malformation, pulmonary atresia with ventriculoseptal defect (PA/VSD), have a recognisable phenotype. Fourteen patients with cyanotic congenital heart lesions were examined by dysmorphologists blind...
Topics
- Base Sequence
- Child
- Child, Preschool
- Chromosome Deletion
- Chromosomes, Human, Pair 22
- Face
- Female
- Heart Septal Defects, Ventricular
- Humans
- Infant
- Male
- Molecular Sequence Data
- Phenotype
- Polymerase Chain Reaction
- Pulmonary Atresia
- Single-Blind Method
- Syndrome