[P2-185] A Case of interstitial deletion of chromosome 9
[Introduction]Interstitial deletion of 9q is a rare chromosomal abnormality , as approximately 20 cases with deletions of 9q21-q34, varying in size and location, have been reported in the literature. The phenotypes include intellectual disability, skeletal and craniofacial anomalies. [Clinical report] The patient is a 7-year-old boy of healthy, nonconsanguineous parents. He displayed a clinical phenotype characterized by mild intellectual disability with autism spectrum syndrome, thick hair, arched eyebrows, downslanted palpebral fissure, wide nasal bridge, broad chin, prognathism, and tapered fingers. While his G-band analysis was normal, SNP array detected a deletion of 4.1Mb in the 9q31.1q31.3 regions. He developed frequent episodes of vomiting with or without ketosis and/or hypoglycemia, since he was three years old. Due to right occipital spikes on interictal EEG, valproic acid(VPA) was administered and seemed to be effective. Thereafter, he started to gain body weight, and obesity with fatty liver became evident. VPA was stopped and strict diet therapy was introduced, leading to the recovery of liver dysfunction. Vomiting attacks relapsed, but the paroxysmal discharges on EEG didn’t recur and any substitutive anti-epiletics has not been introduced. [Conclusions] The clinical features of our patient were similar to young adult cases reported by Mucciolo et al (Mucciolo M, 2014). They showed obesity, fatty lever, diabetes, hypertension, and heart disease, suggesting de novo 9q31.1q31.3 deletions produce the distinct clinical phenotype including a high risk of lifestyle disease. The subacute development of obesity and fatty liver with the medication of VPA might indicate the underlying susceptibility of this patient.