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. Author manuscript; available in PMC: 2008 Sep 1.
Published in final edited form as: Nat Genet. 2008 Feb 17;40(3):322–328. doi: 10.1038/ng.93

Figure 2.

Figure 2

Pedigrees and patient photographs of 15q13 deletions. Developmental delay and seizure phenotype is indicated by left- and right-half shaded symbols, respectively. Presence or absence of 15q13 deletions is shown below each symbol in all individuals tested (absence of text indicates unavailable for testing). Photographs of affected family members are below each pedigree. We obtained consent to publish photographs from each individual included in this figure. (a) Family of proband IMR338. All affected individuals have 3.9 Mb deletions. Note the full everted lips and deep-set eyes evident in affected individuals. IMR338Cb is unaffected and does not have the deletion. (b) Patient 02961 (de novo deletion); note hypertelorism, synophrys, prominent philtrum, everted upper lip, and hypotonic facies. (c) Patient 69/06 (de novo deletion); note the prominent philtrum, everted upper lip, hypertelorism, and hypotonic facies. (d) Family of proband CMS5826. Note upslanting palpebral fissures and prominent philtrum in the patient.