PMC5799895_01
PMC5799895_02
The appearance, karyotyping, FISH and DNA fingerprinting results for patient 1. a Frontal view of patient 1 displays some facial dysmorphism, including ocular hypertelorism, nystagmus and uneven pigmentation. b Deeper pigmentation on the buttocks and back. c Partial karyotype by G-banding showing three extra idic(15) regions (red arrow) d FISH analysis using D15Z1 (green arrow) and D15S11 (red arrow) showing that each idic(15) has two green hybridization signals and two red hybridization signals. A normal chromosome 15 has one green and one red hybridization signal. e and f Electropherograms of the markers D15S156 (e) and D15S219 (f) in the father, children and mother (top to bottom). The children have three different alleles of D15S156 and D15S219. e The informative marker of D15S156 shows two different maternal alleles (206 and 224) and one paternal allele (212), indicating that the duplicated region of patient 1 was maternal. f The informative marker of D15S219 shows two different maternal alleles (308 and 310) and one paternal allele (299), again illustrating that the duplicated region was maternal
13039_2018_365_Fig1_HTML.jpg
PMC5799895_02_13039_2018_365_Fig1_HTML.jpg
Fig1
The percentage of her body covered with hyperpigmentation is estimated to exceed 85% (Fig. 1).
PMC5799895_03
The appearance, karyotyping and FISH results for patient 2. a The proband has mild facial dysmorphism with low-set ears, a depressed nasal bridge and ocular hypertelorism. b Partial karyotype by G-banding showing two extra idic(15) regions (red arrow) c FISH analysis of patient 2 using whole-chromosome painting (WCP) probes showing one and two idic(15) regions d The patient 2 had a hemangioma (2 cm x 4 cm) on her left leg. e Partial karyotype by C-banding showing that each SMC(15) had two centromeres, indicating that the SMC(15) was idic(15)
13039_2018_365_Fig2_HTML.jpg
PMC5799895_03_13039_2018_365_Fig2_HTML.jpg
Fig2
The clinical phenotype of patient 2 was similar to that of patient 1, but patient 2 only had slight hyperpigmentation and no cleft palate (Fig. 2). Her skin hyperpigmentation was also found on her neck and limbs; notably, a hemangioma (2 cm x 4 cm) on her left leg broadened the phenotypic spectrum of the 15q duplication (Fig. 2).