A complex phenotype with cystic renal disease

Slides:

Advertisements

Similar presentations

Ishida et al. Supplementary Figures 1-3 Page 1 Supplementary Fig. 1. Stepwise determination of genomic aberrations on chr-13 in medulloblastomas from Ptch1.

Advertisements

Reduced renal function in patients with simple renal cysts

Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy Heather C. Mefford, Séverine Clauin, Andrew.

A Genome-Wide High-Resolution Array-CGH Analysis of Cutaneous Melanoma and Comparison of Array-CGH to FISH in Diagnostic Evaluation Lu Wang, Mamta Rao,

Integrated Cytogenetic and High-Resolution Array CGH Analysis of Genomic Alterations Associated with MYCN Amplification Cytogenet Genome Res 2011;134:27–39.

The array comparative genomic hybridization (aCGH/CMA) technology

Whole-Genome Scanning by Array Comparative Genomic Hybridization as a Clinical Tool for Risk Assessment in Chronic Lymphocytic Leukemia Shelly R. Gunn,

Artificial oocyte activation with calcium ionophore does not cause a widespread increase in chromosome segregation errors in the second meiotic division.

Tracy I. George, Joanna E. Wrede, Charles D. Bangs, Athena M

Kendy K. Wong, Ronald J. deLeeuw, Nirpjit S. Dosanjh, Lindsey R

Microarray-Based Comparative Genomic Hybridization Using Sex-Matched Reference DNA Provides Greater Sensitivity for Detection of Sex Chromosome Imbalances.

Highly heterogeneous genomic landscape of uterine leiomyomas by whole exome sequencing and genome-wide arrays Svetlana A. Yatsenko, M.D., Priya Mittal,

Harvey A. Greisman, Noah G. Hoffman, Hye Son Yi

Parapelvic cysts leading to a diagnosis of Fabry disease

Volume 69, Issue 11, Pages (June 2006)

Diagnostic Genome Profiling in Mental Retardation

Mariëlle I. Gallegos Ruiz, MSc, Hester van Cruijsen, MD, Egbert F

Truncation of the Down Syndrome Candidate Gene DYRK1A in Two Unrelated Patients with Microcephaly Rikke S. Møller, Sabine Kübart, Maria Hoeltzenbein,

Comparative Genomic Hybridization Analysis of Astrocytomas

Whole-Genome Scanning by Array Comparative Genomic Hybridization as a Clinical Tool for Risk Assessment in Chronic Lymphocytic Leukemia Shelly R. Gunn,

Quiz page answers january 2004

Fluorescence In Situ Hybridization

Infected kidney cysts Kidney International

Truncation of the Down Syndrome Candidate Gene DYRK1A in Two Unrelated Patients with Microcephaly Rikke S. Møller, Sabine Kübart, Maria Hoeltzenbein,

A Genome-Wide High-Resolution Array-CGH Analysis of Cutaneous Melanoma and Comparison of Array-CGH to FISH in Diagnostic Evaluation Lu Wang, Mamta Rao,

Comprehensive meiotic segregation analysis of a 4-breakpoint t(1;3;6) complex chromosome rearrangement using single sperm array comparative genomic hybridization.

Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males Hilde Van Esch, Marijke.

Artificial oocyte activation with calcium ionophore does not cause a widespread increase in chromosome segregation errors in the second meiotic division.

Comorbidity and confounding in end-stage renal disease

Volume 70, Issue 11, Pages (December 2006)

Bassem A. Bejjani, Lisa G. Shaffer

Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy Heather C. Mefford, Séverine Clauin, Andrew.

Volume 71, Issue 11, Pages (June 2007)

Defining Ploidy-Specific Thresholds in Array Comparative Genomic Hybridization to Improve the Sensitivity of Detection of Single Copy Alterations in Cell.

Volume 70, Issue 12, Pages (December 2006)

Array Comparative Genomic Hybridization Detects Chromosomal Abnormalities in Hematological Cancers That Are Not Detected by Conventional Cytogenetics

Volume 56, Issue 4, Pages (October 1999)

High-Resolution Molecular Characterization of 15q11-q13 Rearrangements by Array Comparative Genomic Hybridization (Array CGH) with Detection of Gene Dosage

Volume 71, Issue 6, Pages (March 2007)

Volume 70, Issue 12, Pages (December 2006)

High-Throughput Analysis of Subtelomeric Chromosome Rearrangements by Use of Array-Based Comparative Genomic Hybridization Joris A. Veltman, Eric F.P.M.

Fructose intake as a risk factor for kidney stone disease

Gayatry Mohapatra, Rebecca A. Betensky, Ezra R

Development of Five Dual-Color, Double-Fusion Fluorescence in Situ Hybridization Assays for the Detection of Common MLL Translocation Partners Jeannette.

Large Clinically Consequential Imbalances Detected at the Breakpoints of Apparently Balanced and Inherited Chromosome Rearrangements Sarah T. South,

Volume 69, Issue 12, Pages (June 2006)

Volume 69, Issue 3, Pages (February 2006)

Reduced renal function in patients with simple renal cysts

The Variant inv(2)(p11.2q13) Is a Genuinely Recurrent Rearrangement but Displays Some Breakpoint Heterogeneity Ina Fickelscher, Thomas Liehr, Kathryn.

Volume 69, Issue 10, Pages (May 2006)

Unilateral renal cystic disease

9p21 Deletion in Primary Cutaneous Large B-Cell Lymphoma, Leg Type, May Escape Detection by Standard FISH Assays Thomas Wiesner, Anna C. Obenauf, Jochen.

Volume 74, Issue 9, Pages (November 2008)

The Case ∣ Hypocalcemia, chronic renal failure and dysmorphism?

Organ transplantation goes to the movies

Volume 70, Pages S84-S90 (November 2006)

Atherosclerotic renal artery stenosis and reconstruction

Volume 80, Issue 10, Pages (November 2011)

Highly heterogeneous genomic landscape of uterine leiomyomas by whole exome sequencing and genome-wide arrays Svetlana A. Yatsenko, M.D., Priya Mittal,

Perirenal lymphatic filariasis presenting as chyluria during pregnancy

Is complement a target for therapy in renal disease?

Volume 70, Issue 3, Pages (August 2006)

Advisory about gadolinium calls for caution in the treatment of uremic patients with lanthanum carbonate S. Aime, C. Canavese, P. Stratta Kidney International

Volume 70, Issue 5, Pages (September 2006)

Mild renal insufficiency is associated with reduced coronary flow in patients with non- obstructive coronary artery disease A.R. Chade, D. Brosh, S.T.

Volume 70, Issue 10, Pages (November 2006)

The International Pediatric Peritonitis Registry: Starting to walk

Non-invasive assessment of kidney oxygenation: a role for BOLD MRI

C. E. Browne, N. R. Dennis, E. Maher, F. L. Long, J. C. Nicholson, J

Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males Hilde Van Esch, Marijke.

Presentation transcript:

A complex phenotype with cystic renal disease D. Müller, E. Klopocki, L.M. Neumann, S. Mundlos, M. Taupitz, I. Schulze, H.-H. Ropers, U. Querfeld, R. Ullmann Kidney International Volume 70, Issue 9, Pages 1656-1660 (November 2006) DOI: 10.1038/sj.ki.5001746 Copyright © 2006 International Society of Nephrology Terms and Conditions

Figure 1 Phenotype of the patient at the age of 13 years. (a) Truncal obesity, short neck, and large ears, and (b) magnetic resonance imaging of the abdomen using gadolinium as the contrast medium. Note the small, hyperechogenic kidneys containing multiple cortical small cysts (arrows). Kidney International 2006 70, 1656-1660DOI: (10.1038/sj.ki.5001746) Copyright © 2006 International Society of Nephrology Terms and Conditions

Figure 2 Array CGH profile of chromosome 17. Cy3/Cy5 intensity ratios of each clone are plotted in a size-dependent manner along the chromosome ideograms. The red and green lines indicate the log2 ratio thresholds -0.3 (loss) and 0.3 (gain), respectively. For visualizing the content of low-copy repeats in the ratio plots, each BAC clone was classified into one out of seven categories and color-coded as described previously.7 The color code is given by the color bar to the right (e.g., red=no low-copy repeats). Both, the accumulation of low-copy repeats and the presence of DNA copy number polymorphisms at the breakpoints, as shown by the level bars in the close-up, suggest that these sites are hot spots for chromosomal rearrangements. Kidney International 2006 70, 1656-1660DOI: (10.1038/sj.ki.5001746) Copyright © 2006 International Society of Nephrology Terms and Conditions

Figure 3 Confirmation of array CGH results by FISH. FISH with BAC probes (a) RP11-445F12 and (b) RP11-115K3 mapped to 17q12 labelled with spectrum orange and control probe cep17 labelled with spectrum green confirm the heterozygous deletion in the patient. Kidney International 2006 70, 1656-1660DOI: (10.1038/sj.ki.5001746) Copyright © 2006 International Society of Nephrology Terms and Conditions