48d7e784a0a5a3daf3034b96bbebad8d 300809.pdf cda6af47370bda0c13be8f574e2a8997d6b53366 300809.pdf 671653df0eff777e570ba55525da918c087cfc6995cfab1968550bf960c9ce03 300809.pdf Title: EAA/EMQN best practice guidelines for molecular diagnosis of Y‐chromosomal microdeletions: State of the art 2023 Subject: Andrology 2024.12:487-504 Keywords: Author: Creator: LaTeX with hyperref package Producer: Acrobat Distiller 10.0.0 (Windows); modified using iText 4.2.0 by 1T3XT CreationDate: Thu Feb 1 09:01:56 2024 CET ModDate: Fri Sep 20 09:50:07 2024 CEST Custom Metadata: yes Metadata Stream: yes Tagged: no UserProperties: no Suspects: no Form: none JavaScript: no Pages: 18 Encrypted: no Page size: 595.276 x 782.362 pts Page rot: 0 File size: 1096477 bytes Optimized: no PDF version: 1.6 name type encoding emb sub uni object ID ------------------------------------ ----------------- ---------------- --- --- --- --------- CFFODL+Lato-Regular Type 1C Custom yes yes no 67 0 CFFPBH+Lato-Bold Type 1C WinAnsi yes yes no 68 0 CFGAKN+Lato-Italic Type 1C WinAnsi yes yes no 100 0 CFGBKI+STIXTwoMath Type 1C Custom yes yes yes 69 0 Times-Roman Type 1 WinAnsi no no no 5 0 CFGJME+Lato-Black Type 1C WinAnsi yes yes no 90 0 CFHCJL+STIX-Regular Type 1C Custom yes yes yes 101 0 CFJKME+STIXTwoText-Italic Type 1C WinAnsi yes yes no 269 0 CFKCKC+SFTT0800 Type 1C WinAnsi yes yes no 279 0 CFKCKD+STIXTwoText Type 1C Custom yes yes yes 280 0 Jhove (Rel. 1.28.0, 2023-05-18) Date: 2024-09-21 02:53:13 CEST RepresentationInformation: 300809.pdf ReportingModule: PDF-hul, Rel. 1.12.4 (2023-03-16) LastModified: 2024-09-20 10:56:25 CEST Size: 1096477 Format: PDF Version: 1.6 Status: Well-Formed, but not valid SignatureMatches: PDF-hul ErrorMessage: Invalid indirect destination - referenced object 'andr13514-supitem-0001' cannot be found ID: PDF-HUL-149 ErrorMessage: edu.harvard.hul.ois.jhove.module.pdf.PdfInvalidException: Invalid indirect destination - referenced object 'andr13514-supitem-0001' cannot be found ID: PDF-HUL-122 Offset: 988267 MIMEtype: application/pdf PDFMetadata: Objects: 0 FreeObjects: 2 IncrementalUpdates: 0 DocumentCatalog: PageLayout: SinglePage PageMode: UseOutlines Outlines: Item: Title: EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: State of the art 2023 Destination: chapter..1 Children: Item: Title: Abstract Destination: section*.2 Item: Title: 1 | INTRODUCTION Destination: section..1.1 Children: Item: Title: 1.1 | What is new? Destination: subsection..1.1.1 Item: Title: 2 | INDICATIONS FOR THE GENETIC TESTING OF THE Y CHROMOSOME Destination: section..1.2 Item: Title: 3 | STRUCTURE OF THE MALE-SPECIFIC REGION OF THE Y CHROMOSOME Destination: section..1.3 Item: Title: 4 | DELETION TYPES AND THEIR MOLECULAR MECHANISM Destination: section..1.4 Item: Title: 5 | GENOTYPE-PHENOTYPE CORRELATIONS IN COMPLETE AZF DELETIONS Destination: section..1.5 Children: Item: Title: 5.1 | Prognostic value of AZF deletion testing Destination: subsection..1.5.1 Item: Title: 6 | IMPLICATIONS FOR GENETIC COUNSELING Destination: section..1.6 Item: Title: 7 | PARTIAL AZF DELETIONS Destination: section..1.7 Children: Item: Title: 7.1 | Gene-specific partial AZFa deletions Destination: subsection..1.7.1 Item: Title: 7.2 | gr/gr partial AZFc deletions Destination: subsection..1.7.2 Item: Title: 7.3 | Clinical implications of gr/gr deletions Destination: subsection..1.7.3 Item: Title: 7.4 | Guidelines for diagnostic testing Destination: subsection..1.7.4 Children: Item: Title: 7.4.1 | Testing for AZFa deletions Destination: subsubsection..1.7.4.1 Item: Title: 7.4.2 | Testing for AZFb deletions Destination: subsubsection..1.7.4.2 Item: Title: 7.4.3 | Testing for AZFc deletions Destination: subsubsection..1.7.4.3 Item: Title: 7.4.4 | Testing for AZFbc deletions Destination: subsubsection..1.7.4.4 Item: Title: 7.5 | Setting up the PCR reaction: Internal quality control and recommended markers Destination: subsection..1.7.5 Item: Title: 7.6 | Interpretation of the results and repetition of the test Destination: subsection..1.7.6 Item: Title: 8 | REPORTING GENETIC TEST RESULTS Destination: section..1.8 Children: Item: Title: 8.1 | Alternative methods for Y microdeletion testing Destination: subsection..1.8.1 Item: Title: 9 | 22 YEARS OF EXPERIENCE OF THE EAA/EMQN EXTERNAL QUALITY ASSESSMENT Destination: section..1.9 Item: Title: ACKNOWLEDGMENTS Destination: section*.4 Item: Title: AUTHORITY STATEMENT Destination: section*.6 Item: Title: ORCID Destination: section*.8 Item: Title: REFERENCES Destination: section*.10 Item: Title: SUPPORTING INFORMATION Destination: section*.12 Item: Title: APPENDIX A Destination: appendix..A Children: Item: Title: EXAMPLE OF A PCR PROTOCOL Destination: section*.14 Item: Title: APPENDIX B Destination: appendix..B Children: Item: Title: LOCUS AND SEQUENCE OF THE PCR PRIMERS (FOR FURTHER INFORMATION, SEE ALSO “MSY BREAKPOINT MAPPER”) Destination: section*.16 Item: Title: APPENDIX C Destination: appendix..C Children: Item: Title: COMMERCIALLY AVAILABLE KITS AND THEIR CHARACTERISTICS WITH RESPECT TO THE EAA/EMQN GUIDELINES Destination: section*.18 Filters: FilterPipeline: FlateDecode FilterPipeline: DCTDecode Images: Image: NisoImageMetadata: FormatName: image/png ImageWidth: 228 ImageHeight: 45 ColorSpace: RGB BitsPerSample: 8 BitsPerSampleUnit: integer Filter: FlateDecode Image: NisoImageMetadata: FormatName: image/jpg CompressionScheme: JPEG ImageWidth: 94 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