Case Report

8q22.2q22.3 Microdeletion Syndrome Associated with Hearing Loss and Intractable Epilepsy

Table 2

Summary of deletion data of patients 1–5 from Kuechler et al.; patient 6 from Kuroda et al.; and patient 7 from Sinajon et al. compared with the present report.

AuthorsPatientsFirst proximal deleted locusLast distal deleted locusMinimal deletion size (Mb)

Kuechler et al.Patient 199,895,352105,151,3845.26
Patient 2100,688,715106,789,2616.10
Patient 399,293,796104,556,2555.26
Patient 4100,025,224106,469,3476.44
Patient 5102,017,156103,939,5731.92

Kuroda et al.Patient 6103,066,066104,430,4351.36

Sinajon et al.Patient 7100,142,380103,492,9013.35

Rincón et al.Patient 899,509,806104,747,3545.23

Patients 1-5 and patient 8 based on UCSC Genome Browser hg18, March 2006, and patients 6 and 7 based on 2009 (GRCh37/hg19).