hrp0086p1-p808 | Syndromes: Mechanisms and Management P1 | ESPE2016
Dateki Sumito
, Watanabe Satoshi
, Kinoshita Fumiko
, Yoshiura Koh-ichiro
, Moriuchi Hiroyuki
Background: Interstitial deletions of the short arm of chromosome 11 are rare chromosomal anomalies, and are considered to be associated with several clinical conditions including WAGR syndrome.Objective: To report the clinical and molecular findings in the first case of a heterozygous 11p14.1-p15.3 deletion.Patient: A Japanese female patient was born at 39 weeks of gestation after an uncomplicated pregnancy and delivery. At birth,...