Figure - PMC

Skip to main content

An official website of the United States government

Here's how you know

Here's how you know

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you've safely connected to the .gov website. Share sensitive information only on official, secure websites.

View full-text article in PMC

. 2018 Nov 30;9:600. doi: 10.3389/fgene.2018.00600

Search in PMC
Search in PubMed
View in NLM Catalog
Add to search

Copyright © 2018 Cirello, Giorgini, Castronovo, Marelli, Mainini, Sironi, Recalcati, Pessina, Giardino, Larizza, Persani, Finelli, Russo and Fugazzola.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

PMC Copyright notice

Cytogenetic and molecular characterization of upd(7)mat (A) Q-banding ruled out any apparently balanced structural rearrangement in the chromosome 7 homologous of both the patient (a) and her mother (b). (c) Identification in the patient of a 6 kb homozygous deletion within the SLC26A4 gene at 7q22.3 (minimum interval chr7:107344703_107350605, GRCh37/hg19) using Agilent CGH 400K array. The mother resulted heterozygous for the same deletion. (B) Family pedigree: filled symbol indicates the homozygous-affected proband and symbol with dot denotes carrier mother. Parents-to-proband segregation of alleles at 21 microsatellites spanning chromosome 7 is shown. STR markers mapping within the disomic region are highlighted in red, the markers showing the lack of paternal contribution are bolded. (C) MS-MLPA profile of the imprinted loci at chromosomes 6, 7, and 14 in the proband. Copy number quantification (top panel) and methylation ratio (bottom panel) for GRB10:alt-TSS-DMR and MEST:alt-TSS-DMR are shown. Each black dot displays the final probe ratio for each locus analyzed, and refers to the interval of values obtained by reference samples (light blue rectangles). The red and blue lines indicate the arbitrary borders for loss and gain, respectively. By default, the borders are placed ±0.3 from the mean probe value of a probe over the reference samples. No deviation from reference samples is observed for CNVs, indicating a biallelic contribution (top panel). The MS profile shows a gain of methylation (methylation ratio = 1) for the paternally imprinted MEST:alt-TSS-DMR in the proband, as shown by blue dots, with respect to reference samples (methylation ratio = 0.5). On the contrary, a proper methylation is observed at the GRB10:alt-TSS-DMR, as shown by black dots (bottom panel). Standard deviations were set up according to the Coffalyzer DB software v131211. (D) SNP array profile of patient chromosome 7. Top plot shows B allele frequency revealing an 83.5 Mb isodisomic region (7q11.23-qter) including PEG10:TSS-DMR, MEST:alt-TSS-DMR, and HTR5A:TSS-DMR imprinted loci; bottom plot shows Log R ratio, which reveals a proper biallelic contribution.