PMC4198684_01
Clinical photographs of the patient with 1p36 triplication.
(A) Front view of the face. (B) Lateral view of the face. The major facial phenotype included strabismus, hypertelorism, low hairline, ear malformations, broad nasal bridge, wide mouth, thick lips and prominent incisors.
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Fig1
PMC4198684_02
Copy number variants analysis of the patient: (A) "Normal" high-resolution karyotype.
(B) A SNP microarray analysis detected an approximately 5.28-Mb triplication in the short arm of chromosome 1. (C) MLPA result using SALSA kit P147-B1 of MRC Holland, showing a triplication included all probes from ISG15 up to AJAP1(RPH are approximately 2.0). (D) FISH results of the patient. Two red signals with the similar strength were presented in the long arm of chromosome 1 by the control probe TelVysion 1q. However, by the testing probe TelVysion 1p, the green hybridization signal in one 1p was obviously stronger than that in the other 1p, and in interphase nucleus, four green signals could be seen. (E) FISH image of the parents of the patient showed normal appearance, indicating that the 1p partial triplication is de novo (the FISH image of mother didn't shown). (F) Quantitative PCR analysis showed the patient had 3 to 6 times as higher expression levels than control for the four genes B3GALT6, MIB2, PEX10, PANK4 in the blood.
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Fig2
For the selected 4 OMIM genes B3GALT6 (betaGal beta 1,3-galactosyltransferase polypeptide 6), MIB2 (mindbomb E3 ubiquitin protein ligase 2), PEX10 (peroxisomal biogenesis factor 10), PANK4 (pantothenate kinase 4), which are situated in the 1p36.33p36.32 region and were expression in blood, the ratios of the patient to the controls (a healthy 8-year-old female sample) showed significant differences (Figure 2F), indicating upregulated and deregulated expression respectively.
PMC4198684_03
Copy number variants analysis of the patient: (A) "Normal" high-resolution karyotype.
(B) A SNP microarray analysis detected an approximately 5.28-Mb triplication in the short arm of chromosome 1. (C) MLPA result using SALSA kit P147-B1 of MRC Holland, showing a triplication included all probes from ISG15 up to AJAP1(RPH are approximately 2.0). (D) FISH results of the patient. Two red signals with the similar strength were presented in the long arm of chromosome 1 by the control probe TelVysion 1q. However, by the testing probe TelVysion 1p, the green hybridization signal in one 1p was obviously stronger than that in the other 1p, and in interphase nucleus, four green signals could be seen. (E) FISH image of the parents of the patient showed normal appearance, indicating that the 1p partial triplication is de novo (the FISH image of mother didn't shown). (F) Quantitative PCR analysis showed the patient had 3 to 6 times as higher expression levels than control for the four genes B3GALT6, MIB2, PEX10, PANK4 in the blood.
13039_2014_64_Fig2_HTML.jpg
PMC4198684_03_13039_2014_64_Fig2_HTML.jpg
Fig2
For the selected 4 OMIM genes B3GALT6 (betaGal beta 1,3-galactosyltransferase polypeptide 6), MIB2 (mindbomb E3 ubiquitin protein ligase 2), PEX10 (peroxisomal biogenesis factor 10), PANK4 (pantothenate kinase 4), which are situated in the 1p36.33p36.32 region and were expression in blood, the ratios of the patient to the controls (a healthy 8-year-old female sample) showed significant differences (Figure 2F), indicating upregulated and deregulated expression respectively.