22q11 Deletion Syndrome and Urogenital Manifestations: A Clinicopathological Case Report

Frontiers in Medicine

M. Vachette¹ 

关键词: 22q11 deletion syndrome;    DiGeorge syndrome;    CATCH22 syndrome;    urogenital manifestations;    renal agenesis;    hypospadias;   

DOI  :  10.3389/fmed.2016.00053

学科分类：医学（综合）

来源: Frontiers

【 摘 要 】

BackgroundDeletion in the chromosomal region 22q11 results from the abnormal development of the third and fourth pharyngeal pouches during embryonic life and presents an expansive phenotype with more than 180 clinical features described that involve every organ and system.

【 授权许可】

CC BY