Fig. 2
From: Clinical and genetic features of a case with juvenile onset sandhoff disease
Family tree and gene sequencing data of this patient. From top to bottom were the patient, the patient’s mother, and the patient’s father (A, C). Sanger sequencing showed the boy and his mother had c.1509-26G>A variation (A). The genealogical diagram of the family (B). CNV analysis showed the boy had a CNV variant chr5: g. 74012742_74052694del, so did his father. The region indicated by the arrow is the deletion region (C)