11.Hypoxic ventilatory depressionと思われる一症例について(第551回千葉医学会例会・第9回麻酔科例会・第18回千葉麻酔懇話会)

FISH analysis on metaphase nuclei (top panel) of cultured cells derived from peripheral blood leukocytes of the proband of family 2 by using BAC probes for 11p15.5-15.4 (RP11-11A9, 3,236,552-3,356,012, green) and 11q22.3 (RP11-179B7, 104,298,339-104,459,797, red). The green signal on both homologues is visible only at chr11p, demonstrating the presence of an in cis duplication and excluding an unbalanced translocation. FISH analysis on interphase nuclei (bottom panel) using the BACs RP11-699D10 (2.9–3.0 Mb, red) and RP11-11A9 (green), hybridizing within the duplication. Note that single and duplicated signals can be seen on the two homologues, respectively. The red-green-green-red order of the duplicated signals indicates that the duplication is inverted. (PDF 52 kb

Additional file 1: of Large intragenic deletion of CDC73 (exons 4–10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family

The file contains the sequences of the mutagenesis primers and the mutagenesis protocol. (DOCX 12 kb

Additional file 6: Figure S6. of Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes

DNA methylation (top) and copy number (CN, bottom) analyses at 11p15 region in family 2, determined by MS-MLPA. The histograms represent the normalized DNA methylation of ICR1 and ICR2 and CN of the genomic region spanning from the NSD1 to KCNQ1 gene. The CN range that is considered normal is shadowed. Note that methylation of ICR2 is abnormally low while CN values of ICR2 and KCNQ1 exon 13-17 are abnormally high in the proband and his mother. (PDF 130 kb

Additional file 7: Figure S7. of Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes

Note that the haplotype associated with the duplication segregates from I-1 to II-2 and III-1 and that only the D11S4088 marker shows allelic imbalances in II-2 and III-1. (PDF 141 kb

Additional file 1: Figure S1. of Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes

Comparative genomic hybridization analysis performed on DNA of the proband from family 1. The extension, the genomic localization (GRC h37/hg19) and the genes included in the duplication are shown. (PDF 54 kb

Additional file 2: Figure S2. of Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes

Single nucleotide polymorphism analysis of genomic DNA from relatives of family 1. I-1 = maternal grandfather, II-2 = mother, III-1 = first brother of the proband, and III-2 = second brother of the proband. Note that the duplication is present in II-2 and III-2 but not in I-1 and III1. (PDF 127 kb

Additional file 4: Figure S4. of Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes

FISH analysis on metaphase nuclei (top panel) of cultured cells derived from the umbilical cord of the proband of family 1 by using BAC probes for 11p15.5-15.4 (RP11-81K4, 2798699-2970438, green) and 11q22.3 (RP11-876C12, 103,804,669-103,982,517, red). The green signal on both homologues is visible only at chr11p, demonstrating the presence of an in cis duplication and excluding an unbalanced translocation. FISH analysis on interphase nuclei (bottom panel) using the BACs RP11-11A9 (3,236,552-3,356,012, green) and RP11-81K4 (red), hybridizing within the duplication. Note that single and duplicated signals can be seen on the two homologues, respectively. The green-red-red-green order of the duplicated signals indicates that the duplication is inverted. (PDF 51 kb

MOESM6 of Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer

Additional file 6: Table S6. Chromosomal rearrangements of cancer function-related genes detected in the proband through single nucleotide polymorphism

MOESM1 of Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer

Additional file 1: Table S1. Variants of tumor genes detected by Sanger sequencing in the proband

<i>In</i><i>situ</i> analysis for LAMA4⁺, TCF21⁺ and KCNJ1⁺ using confocal laser scanning microscopy.

<p>RCC tumor tissues (T) were characterized by a significant increase of LAMA4 expression (<b>B</b>) and decrease of TCF21 (<b>E</b>) and KCNJ1 (<b>H</b>) expression as compared to non-tumoral (NT) kidney portion (<b>A</b>, <b>D</b>, <b>G</b>). Nuclei are highlighted with TO-PRO in blue, Quantification of specific protein expression was obtained as described in the Methods section, (<b>C</b>, <b>F</b>, <b>I</b>). Results are expressed as mean ± S.D. For each group, all images (magnification 63X) are from a single patient and are representative of the whole group of patients.</p