PMC4023550_01
Propositus at 6 years of age. a) high-set hairline, mild synophrys, ocular hypertelorism, upslanting palpebral fissures, and wide mouth with conical teeth. b) flat-bridged and broad-based nose, hypoplastic nostrils, prominent columella, long filtrum, thin upper lip, prominent chin; c) scars of a bilateral inguinal and umbilical hernia correction surgery.
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F1
Some of these features can be seen in Figure 1.
Cytogenomic results. (a) Partial karyotype of the patient showing the inherited sSMC using GTG band, C band and NOR staining (b) Partial karyotype of the patient s mother and grandfather (c; d) the patient s sSMC labeled by FISH using a chromosome 15 centromere probe (Aquarius Cytocell) and a chromosome 16 Whole Painting probe (Aquarius  ) and in detail, the sSMC with the co-hybridization showing both probes simultaneously in a single image (e) ideogram showing the putative structure of the marker chromosome.
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F2
FISH analysis using a centromeric 15 probe and a WCP16 probe confirmed the involvement of chromosomes 15 and 16 in the rearrangement (Figure 2).