Table 2 Array CGH results with the resulting genomic imbalance, the parental origin and the clinical features of the seven patients with dup del or inv dup del rearrangements
CaseArray resultsGenomic imbalance*Clinical features
Case 5 (GJ)dup del 13qdel 13q: 5.8 Mb (from 108.248 Mb to telomere); dup 13q: 5.9 Mb (from 101.920 to 107.896 Mb)Age at examination: birthOligohydramnios, intrauterine growth retardation (36 weeks–1400 g/39 cm), cystic kidneys, hypotelorism, narrow forehead, dysplastic and low set ears, short neck, 2 umbilical vessels, bilateral cryptorchidism, arthrogrypotic restriction of movements in almost all limb joints, deviation towards the middle of fingers 2 and 5; hypoplastic lungs, died 9 h after delivery.
Case 7 (AG)inv dup 13qdel 13q: 10 Mb (from 104.243 Mb to telomere); dup 13q: 20 Mb (from 82.097 to 103.639 Mb)Age at examination: birth, 2 yearsAt birth muscular hypotonia and anal atresia; growth parameters always below the 3rd centile; profound psychomotor delay and mild dysmorphic features. Imaging studies revealed patent ductus arteriosus, pale optic discs, mild cerebral atrophy and rostral hypoplasia.
Case 10 (AV)dup del 13qdel 13q: 10 Mb (from 104.008 to 114.123 Mb); dup 13q: 22.8 Mb (from 81.242 to 104.047 Mb)Age at examination: 12 yearsFacial dysmorphisms included: low forehead, downslanting palpebral fissures, misshapen ears; microcephaly, deafness, spastic cerebral palsy, severe motor and mental retardation
Case 13 (FD)inv dup 15qdel 15q: 5 Mb (from 95.258 Mb to telomere); dup 15q: 2 Mb (from 93.502 to 95.128 Mb)Age at examination: birth, 3, 6, 9 yearsReferred at 3 years because of growth retardation and dysmorphic features; slightly retarded psychomotor development. Growth parameters at birth, at 3, 6 and 9 years well below the 3rd centile. Total IQ was 67. Asymmetric café au lait spots, hypochromic spots and naevi on limbs and chest, microcephaly, triangular face, abnormal hand ossification with an additional phalanx on the third finger
Case 21 (LM)dup del 18p; del18q22.1qterdel 18p: 0.207 Mb (from telomere to 0.207 Mb); dup 18p: 5.4 Mb (from 0.215 to 5.814 Mb); del 18q: 12.8 Mb (from 63.221 Mb to telomere)Age at examination: 35 yearsAsymmetric and broad face, prominent nasal bridge, attached lobuli of auricles, normal external ear canal, narrow and tapering fingers, proximally implanted and retroflexible thumbs, talipes equinovarus on both sides, growth and mental retardation
Case 26 (TM)dup del 18p; del18q22.3qterdel 18p: 0.500 Mb (from telomere to 0.467 Mb); dup 18p: 14.8 Mb (from 0.571 to 17.137 Mb); del 18q: 7.8 Mb (from 68 Mb to telomere)Age at examination: birth, 5 yearsAt birth: cleft lip and palate, mild muscular hypotonia, heart defect (pulmonary stenosis, ventricular septal defect (VSD), surgery at 1 year). Delayed psychomotor development; all growth parameters at 5 years: << 3rd centile. Abnormal EEG pattern. Facial dysmorphisms
Case 33 (AM)dup del 22qdel 22q: 946 kb (from 48.745 Mb to telomere); dup 22q: 785 kb (from 47.857 to 48.641 Mb)Age at examination: 11 yearsNarrow forehead, full orbits, deep-set eyes with downslanting palpebral fissures, bulbous nose, flat philtrum, full lips, macrostomia, small and prominent ears, truncal obesity, limited excursions in elbows, tapering fingers, transverse palmar crease on the right, moderate to severe mental retardation
  • *Genomic distances are based on the Assembly May 2004.