Three patients with different phenotypes in a family with chromosome 22q11.2 deletions.

Autor: Akiba,, Tomoharu, Odake,, Akiko, Shirahata,, Emi, Matsunaga,, Akira, Sakamoto, Michiyo, Yazaki, Natsume
Předmět:
Zdroj: Pediatrics International; Apr2000, Vol. 42 Issue 2, p183-185, 3p
Abstrakt: Presents a case report on two siblings and their mother who have chromosome 22q11.2 deletions with their different clinical expressions. Significance of an asymmetric crying face; Background on each family member; Results of medical examinations; Analysis and discussion.
Databáze: Complementary Index