PMC4469107_01
Clinical and genetic findings in the proband. a Representation of deleted regions within PTPRD. Black bars represent the deleted segments whereas the green one represents the BAC clone CTD-L2154L8 used in FISH. b Photograph of the proband at 3 years 6 months. The patient shows trigonocephaly, scaphocephaly, midface hypoplasia, a flat nose, a depressed nasal bridge, downslanting palpebral fissures, low set and large ears, a long philtrum, and a drooping mouth c FISH analysis confirming the presence of intron 8 on chromosome 9p. Arrowheads in red indicate a centromeric probe on chr9, and arrows in green indicate CTD-2154L8 mapping IVS8
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PMC4469107_01_13039_2015_149_Fig1_HTML.jpg
Fig1
Clinical examination showed microcephaly, trigonocephaly, scaphocephaly, midface hypoplasia, a flat nose, a depressed nasal bridge, downslanting palpebral fissures, hypertelorism, low set and large ears, a long philtrum, and a drooping mouth (Fig. 1b).