PMC4151026_01
Patient at 1 year and 10 months (a) and 14 years of age (b) showing the facial dysmorphic features; Partial G-banding karyotype showing paternal balanced translocation (c); Partial FISH metaphase with WCP1 probe showing the patient's der(11) with the duplicated segment (d); BAC-FISH results showing the breakpoint delineation in 1q32.3 and 11q25 regions in father's metaphases (e and f); Array result for duplication (blue bar) 1q32.(212,508,954-249,224,376) x 3 (g); and deletion (red bar) 11q25(132,927,027-134,944,770) x 1 (h).
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F1
The clinical evaluation revealed: microsomia, relative macrocephaly, brachycephaly, downslanted palpebral fissures, long and marked eyelashes, synophrys, large ears, hipoplastic ala nasi, prominent nose, high nasal bridge, long and smooth philtrum, abnormal tooth implantation, high palate, forehead abnormal hair implantation, hirsutism, pectus carinatum, thoracic asymmetry, vertical palmar creases one on the left hand and two on the right, overlying position of toes, micropenis and bilateral cryptorchidism (Figure 1a). At age of 14 years, he showed height 125 cm (<5th centile), weight 26 kg (5th centile) and OFC 52.5 cm (50th centile) (Figure 1b). The patient's mother had a normal karyotype but the father carries a balanced translocation t(1;11)(q32;q25) (Figure 1c). FISH analyses were performed with whole chromosome paint (WCP1-Cytocell, Cambridge, UK) and using different BAC probes from chromosomes 1 and 11, as previously reported (Figure 1d, e and f). Further investigations using Genome-Wide Human SNP 6.0 array (Affymetrix Inc., Santa Clara, CA, USA) on the patient revealed the final cytogenomic result as: