Fig. 1
From: Genomic imbalances defining novel intellectual disability associated loci
Facial appearance of patients and schematic representation of the deletions. a Patient R16 facies, with low set posteriorly rotated ears, anteverted ears with simplified helix, temporal narrowing with prominent metopic suture, arched eyebrows, synophrys, bilateral epicanthal folds, bulbous nasal tip, thin upper lip, open mouth with downturned corners, micrognathia; pedigree and deleted region of chromosome 2 (highlighted in red in the chromosome scheme (above) and in grey in the genes’ portion (below), adapted from DECIPHER). b Patient R20 facies, with wide forehead, strabismus, high nasal bridge, wide base of nose, bulbous nasal tip, short and smooth philtrum, thin upper lip with effaced cupid’s bow, prominent central incisors and micrognathia; pedigree and deleted region of chromosome 20. c Patient C15: deleted region in chromosome 17