Article
[22q11.2 deletion syndrome: importance of clinical evaluation and FISH analysis].
Revista da Associacao Medica Brasileira (1992) - 1 Jan 2000
Koshiyama Dayane Bohn, Rosa Rafael Fabiano Machado, Zen Paulo Ricardo Gazzola, Pereira Vera Lúcia Berenstein, Graziadio Carla, Cóser Virgínia Maria, Ricachinevsky Cláudia Pires, Varella-Garcia Marileila, Paskulin Giorgio Adriano
Abstract excerpt
OBJECTIVE: The 22q11.2 deletion syndrome nowadays is considered one of the most often observed genetic diseases in humans. It is clinically characterized by a rather wide phenotypic spectrum, with more than 180 clinical features physical as well as behavioral, already described. However, none is pathognomonic or obligatory which makes diagnosis even more difficult. Thus, this study intended to determine the...
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