PMC4180134_01
Photographs of the patient at different ages showing face asymmetry and hyperpigmented lines A) Patient at 6 months; B) At 15 years old. Note the pigmentary changes including a well-delimited hyperpigmented pattern in: C) Arm and D) Dorsal region.
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Fig1
At six months of age (Figure 1A), she had short stature, cleft palate, face asymmetry, hyperpigmented linear macules in anterior and posterior dorsum, arms and legs following the lines of Blaschko, developmental delay, esophageal reflux, lumbar scoliosis and hip dysplasia. At present (Figure 1B), she has mild facial dysmorphism with face asymmetry, moderate mental retardation, bilateral conductive deafness, nocturnal enuresis and maintains hyperpigmented linear macules in dorsum and limbs (Figures 1C-D).
Cytogenomic analysis A) Microarray analysis shows a partial trisomy 14 of the proximal region between 19.5 Mb and 21.3 Mb (arr 14q11.1q11.2(18,127,052-19,927,052)
x
2~3). FISH with DNA BACs probes for 14q11.2 spectrum green and 14q32.33 spectrum orange shows: B) Metaphase with whole trisomy 14, each chromosome 14 with one green and one orange signals; C) Metaphase with del(14)(q11.2) lacking 14q32.33 orange signal. GTG-banded partial karyotype showing: D) +del(14)(q11.2) E) trisomy 14 and F) normal diploid chromosomes 14.
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Fig2
The microarray revealed a partial trisomy 14 mosaicism (arr 14q11.1q11.2(18,127,052-19,927,052)x2~3), identifying the marker chromosome as chromosome 14 (1.8 MB), resulting in partial trisomy of the proximal region between 19.5 Mb and 21.3 Mb (Figure 2A). FISH revealed the presence of three cell lines: 55.8% normal, 9.6% trisomic (+14) and 34.6% with a deleted chromosome 14 (sSMC14) (Figures 2 B-C). The final result was: mos 47,XX,+del(14)(q11.2)[45]/47,XX,+14[10]/46,XX[45] (Figures 2D-F).