Three patients with different phenotypes in a family with chromosome 22q11.2 deletions.
Akiba
T
T
Department of Pediatrics, Yamagata City Hospital Saiseikan, Japan.
Odake
A
A
Shirahata
E
E
Matsunaga
A
A
Sakamoto
M
M
Yazaki
N
N
D000328:Adult; D002675:Child, Preschool; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D004374:Ductus Arteriosus, Patent / Q000235:genetics; D005146:Facial Asymmetry / Q000235:genetics / Q000473:pathology; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D010641:Phenotype