hrp0086p1-p808 | Syndromes: Mechanisms and Management P1 | ESPE2016

Identification of 11p14.1-p15.3 Deletion Probably Associated with Short Stature, Macrocephaly and Delayed Closure of the Fontanelles

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,...