PMC5738159_01
Prenatal ultrasound images at 34 weeks of gestation, CMA and MS-MLPA results in patient 1. a 2D and 3D prenatal ultrasound examinations at 34 weeks demonstrated macroglossia. b Nephromegaly at 34 weeks prenatal ultrasound image with left kidney length of 7.89 x 3.39 x 3.67 cm, right kidney length of 6.86 x 3.59 x 3.55 cm. c Hepatomegaly at 34 weeks prenatal ultrasound image with length of 5.46 x 8.18 x 5.28 cm. d The CMA chromosome view (up) and gene view (bottom) reveal the breakpoint location and an 896Kb duplication at 11p15.5 (arr[GRCh37]11p15.5(1,632,167-2,527,910)x3). e MS-MLPA shows a peak height ratio value of 1.5 (three copies) at 11p15 (bottom) in comparison with a ratio value of 1 (two copies) from a normal control (upper). f MS-MLPA indicates methylation index of 0.76 at IC1 and methylation index of 0.61 at IC2 (bottom) in comparison with normal control methylation index of 0.65 at IC1 and 0.62 at IC2 (upper)
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Fig1
TRPM5 (Fig. 1d). SALSA MLPA kit ME030-B2) result showed copy number changes with an increased mean peak height ratio of 1.5. This was interpreted as a trisomic pattern for the 11p15 IC1 region and exclude the duplication of the IC2 region (Fig. 1e). The methylation status was gain of methylation at IC1 with a methylation index of 0.76 and normal methylation status on IC2 with a methylation index of 0.61 in comparison with normal control methylation index of 0.65 at IC1 and methylation index of 0.62 at IC2 (Fig. 1f). Six normal cord blood control samples were analyzed for patient 1.
PMC5738159_02
Prenatal ultrasound images at 34 weeks of gestation, CMA and MS-MLPA results in patient 1. a 2D and 3D prenatal ultrasound examinations at 34 weeks demonstrated macroglossia. b Nephromegaly at 34 weeks prenatal ultrasound image with left kidney length of 7.89 x 3.39 x 3.67 cm, right kidney length of 6.86 x 3.59 x 3.55 cm. c Hepatomegaly at 34 weeks prenatal ultrasound image with length of 5.46 x 8.18 x 5.28 cm. d The CMA chromosome view (up) and gene view (bottom) reveal the breakpoint location and an 896Kb duplication at 11p15.5 (arr[GRCh37]11p15.5(1,632,167-2,527,910)x3). e MS-MLPA shows a peak height ratio value of 1.5 (three copies) at 11p15 (bottom) in comparison with a ratio value of 1 (two copies) from a normal control (upper). f MS-MLPA indicates methylation index of 0.76 at IC1 and methylation index of 0.61 at IC2 (bottom) in comparison with normal control methylation index of 0.65 at IC1 and 0.62 at IC2 (upper)
13039_2017_347_Fig1_HTML.jpg
PMC5738159_02_13039_2017_347_Fig1_HTML.jpg
Fig1
TRPM5 (Fig. 1d). SALSA MLPA kit ME030-B2) result showed copy number changes with an increased mean peak height ratio of 1.5. This was interpreted as a trisomic pattern for the 11p15 IC1 region and exclude the duplication of the IC2 region (Fig. 1e). The methylation status was gain of methylation at IC1 with a methylation index of 0.76 and normal methylation status on IC2 with a methylation index of 0.61 in comparison with normal control methylation index of 0.65 at IC1 and methylation index of 0.62 at IC2 (Fig. 1f). Six normal cord blood control samples were analyzed for patient 1.
Appearance at 2 months and 32 months of age, aCGH and MS-MLPA results in patient 2. a Macroglossia was noted at 2 months of age. b Appearance at 32 months showed reduced macroglossia with age. c The aCGH result shows a 228.8Kb deletion at 11p15.5 and a 2.5 Mb duplication at 11p15.5-15.4 (arr[GRCh36] 11p15.5(208,165-436,954)x1,11p15.5p15.4(497,819-2,996,618)x3). d MS-MLPA shows a peak height ratio value of 1.5 (three copies) at 11p15 (bottom) in comparison with a ratio value of 1 (two copies) from a normal control (upper). e MS-MLPA indicates IC1 methylation index of 0.75 and IC2 methylation index of 0.42 (bottom) in comparison of normal control methylation index of 0.58 at IC1 and 0.56 at IC2 (upper)
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Fig2
The macroglossia was evident at 2 months of age (Fig. 2a). Patient 2 was able to eat and speak normally and has reduced macroglossia at 32 months old (Fig. 2b). The aCGH result showed a 228.8Kb deletion at 11p15.5 including genes from SIRT3 to ANO9 and a 2.5 Mb duplication at 11p15.5-15.4 including genes from HRAS to CARS (arr[GRCh36] 11p15.5(208,165-436,954)x1,11p15.5p15.4(497,819-2,996,618)x3) (Fig. 2c). This was interpreted as a trisomic pattern for this chromosomal region (Fig. 2d). The methylation status was gain of methylation at IC1 with methylation index of 0.75 and normal methylation status at IC2 with methylation index of 0.42 in comparison with normal control methylation index of 0.58 at IC1 and methylation index of 0.56 at IC2 (Fig. 2e). Ten normal peripheral blood control samples were analyzed for patient 2.