Results: 4

1.
Figure 2

Figure 2. Array CGH array of the index patient showing duplication and amplification of DNA sequences on chromosomes 7 and 22.. From: Duplication of C7orf58, WNT16 and FAM3C in an Obese Female with a t(7;22)(q32.1;q11.2) Chromosomal Translocation and Clinical Features Resembling Coffin-Siris Syndrome.

(A) Chromosome 7 and 22 plots displaying gains of DNA sequences, shown in boxes, in the 7q31.3 and 7q22 regions. (B, C) Detailed plots of oligonucleotide probes from the microarray along each region of interest denoting the genes and their chromosomal coordinates (hg18) in the duplicated and amplified regions of chromosomes 7 and 22, respectively.

Jun Zhu, et al. PLoS One. 2012;7(12):e52353.
2.
Figure 1

Figure 1. CNVs on chromosomes 1, 4, 15 and 16 of the index patient revealed by Agilent 244K human genome CGH microarray hybridization.. From: Duplication of C7orf58, WNT16 and FAM3C in an Obese Female with a t(7;22)(q32.1;q11.2) Chromosomal Translocation and Clinical Features Resembling Coffin-Siris Syndrome.

The profiles shown represent the averaged combined hybridization data of patient vs. reference DNA. Regions of gain and losses are boxed and depicted as positive or negative log2 ratios relative to the midline that denotes no gain/no loss of DNA sequences.

Jun Zhu, et al. PLoS One. 2012;7(12):e52353.
3.
Figure 3

Figure 3. Representative fluorescent in situ hybridization (FISH) patterns of DNA probes onto chromosomes 7, 22 der(7) and der(22) from this patient’s chromosome spreads.. From: Duplication of C7orf58, WNT16 and FAM3C in an Obese Female with a t(7;22)(q32.1;q11.2) Chromosomal Translocation and Clinical Features Resembling Coffin-Siris Syndrome.

(A) Schematic drawing of normal chromosomes 7 and 22 and derivative chromosomes der(7) and der(22), showing the translocated chromosomal regions. The three panels below depict each the typical hybridization of a probe located (B) on chromosomes 7, der(7), (C) on chromosomes 7, der(7), der(22) and (D) chromosomes 7 and der(22).

Jun Zhu, et al. PLoS One. 2012;7(12):e52353.
4.
Figure 4

Figure 4. FISH maps of YAC and BAC DNA clones from chromosome 7q31.1 in and around the duplicated region.. From: Duplication of C7orf58, WNT16 and FAM3C in an Obese Female with a t(7;22)(q32.1;q11.2) Chromosomal Translocation and Clinical Features Resembling Coffin-Siris Syndrome.

The hg19 genomic coordinates of each marker and gene are indicated next to its designated name. The centromeric (CEN) and telomeric (TEL) directions are specified for orientation on the chromosome. Clones are denoted by their clone names, plate coordinates or/and Genbank designations. Each clone or restriction fragment is also denoted by its hybridization onto the patient’s chromosomes 7, der(7) and/or der(22). (A) FISH map of a 12.9 Mb region of chromosome 7 extending from the CFTR to the CPA1 genes. The denoted YAC probes represent three distinct areas of hybridization relative to the chromosome 7 translocation breakpoint, namely distal (7, der22), at or around the breakpoint (7, der7, der22) and proximal to the breakpoint (7, der7). (B) FISH map of BAC clones at and proximal to the 434,682 bp duplicated region, spanning the tail end of C7orf58 and the entire WNT16 and FAM3C genes. Note that all BAC clones within the duplicated region map to 7,d7,d22. (C) Bam HI restriction map, except for two designated Hind III (H) sites, of BAC 146J04 showing the FISH mapping of Bam HI and Hind III restriction fragments, indicating hybridization to 7,der(7) and der(22). The sizes in bp of each restriction fragment are shown and the exons in each gene displayed with solid boxes. The initiation (ATG) and termination (TGA, TAA) codons denote the gene boundaries except for C7orf58, which is only spanned by its last exon and part of the adjacent intron.

Jun Zhu, et al. PLoS One. 2012;7(12):e52353.

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Write to the Help Desk