acddbd5c3fd452087043b579f18fc2ad 284146.pdf c100b37a7aca179c30eff7843a4ea757f8b30f91 284146.pdf 7e640617529a325b26a556fe09855872f99e449e8ea24f127023b3aabe2e3fa9 284146.pdf Title: Phenotypic Characteristics and Copy Number Variants in a Cohort of Colombian Patients with VACTERL Association Subject: VACTERL association (OMIM 192350) is a heterogeneous clinical condition characterized by congenital structural defects that include at least 3 of the following features: vertebral abnormalities, anal atresia, heart defects, tracheoesophageal fistula, renal malformations, and limb defects. The nonrandom occurrence of these malformations and some familial cases suggest a possible association with genetic factors such as chromosomal alterations, gene mutations, and inherited syndromes such as Fanconi anemia (FA). In this study, the clinical phenotype and its relationship with the presence of chromosomal abnormalities and FA were evaluated in 18 patients with VACTERL association. For this, a G-banded karyotype, array-comparative genomic hybridization, and chromosomal fragility test for FA were performed. All patients (10 female and 8 male) showed a broad clinical spectrum: 13 (72.2%) had vertebral abnormalities, 8 (44.4%) had anal atresia, 14 (77.8%) had heart defects, 8 (44.4%) had esophageal atresia, 10 (55.6%) had renal abnormalities, and 10 (55.6%) had limb defects. Chromosomal abnormalities and FA were ruled out. In 2 cases, the finding of microalterations, namely del(15)(q11.2) and dup(17)(q12), explained the phenotype; in 8 cases, copy number variations were classified as variants of unknown significance and as not yet described in VACTERL. These variants comprise genes related to important cellular functions and embryonic development. Author: Moreno O.M.; Sánchez A.I.; Herreño A.; Giraldo G.; Suárez F.; Prieto J.C.; Clavijo A.S.; Olaya M.; Vargas Y.; Benítez J.; Surallés J.; Rojas A. Creator: Adobe InDesign 16.0 (Windows) Producer: Adobe PDF Library 15.0; modified using iTextSharp 4.1.6 by 1T3XT CreationDate: Fri Dec 18 08:00:13 2020 CET ModDate: Fri Nov 3 12:28:07 2023 CET Tagged: no UserProperties: no Suspects: no Form: none JavaScript: no Pages: 13 Encrypted: no Page size: 595.276 x 793.701 pts Page rot: 0 File size: 464276 bytes Optimized: no PDF version: 1.4 name type encoding emb sub uni object ID ------------------------------------ ----------------- ---------------- --- --- --- --------- DOGZUC+MinionPro-Regular Type 1C Custom yes yes yes 38 0 SFVQWY+MyriadPro-Regular Type 1C WinAnsi yes yes yes 122 0 ZFJLQK+MyriadPro-Bold Type 1C WinAnsi yes yes yes 36 0 UGTXVD+ArialMT TrueType WinAnsi yes yes no 1 0 HPFSYU+MinionPro-It Type 1C WinAnsi yes yes yes 37 0 DOGZUC+MinionPro-Regular Type 1C WinAnsi yes yes yes 88 0 DOGZUC+MinionPro-Regular Type 1C WinAnsi yes yes yes 93 0 PRCJGE+SegoeUISymbol TrueType WinAnsi yes yes yes 44 0 DOGZUC+MinionPro-Regular Type 1C WinAnsi yes yes yes 98 0 DOGZUC+MinionPro-Regular Type 1C WinAnsi yes yes yes 97 0 KMPFOO+SegoeUI TrueType WinAnsi yes yes no 52 0 LLZLCM+SegoeUI-Bold TrueType WinAnsi yes yes no 53 0 KMPFOO+SegoeUI TrueType WinAnsi yes yes no 63 0 Jhove (Rel. 1.22.1, 2019-04-17) Date: 2023-11-04 02:32:05 CET RepresentationInformation: 284146.pdf ReportingModule: PDF-hul, Rel. 1.12.1 (2019-04-17) LastModified: 2023-11-03 12:28:19 CET Size: 464276 Format: PDF Version: 1.4 Status: Well-Formed and valid SignatureMatches: PDF-hul MIMEtype: application/pdf Profile: ISO PDF/A-1, Level B PDFMetadata: Objects: 136 FreeObjects: 1 IncrementalUpdates: 0 DocumentCatalog: ViewerPreferences: HideToolbar: false HideMenubar: false HideWindowUI: false FitWindow: false CenterWindow: false DisplayDocTitle: false NonFullScreenPageMode: UseNone Direction: L2R ViewArea: CropBox ViewClip: CropBox PrintArea: CropBox PageClip: CropBox PageLayout: SinglePage PageMode: UseNone Language: de-DE Outlines: Item: Title: startTableBody Item: Title: startTableBody Info: Title: Phenotypic Characteristics and Copy Number Variants in a Cohort of Colombian Patients with VACTERL Association Author: Moreno O.M.; Sánchez A.I.; Herreño A.; Giraldo G.; Suárez F.; Prieto J.C.; Clavijo A.S.; Olaya M.; Vargas Y.; Benítez J.; Surallés J.; Rojas A. Subject: VACTERL association (OMIM 192350) is a heterogeneous clinical condition characterized by congenital structural defects that include at least 3 of the following features: vertebral abnormalities, anal atresia, heart defects, tracheoesophageal fistula, renal malformations, and limb defects. The nonrandom occurrence of these malformations and some familial cases suggest a possible association with genetic factors such as chromosomal alterations, gene mutations, and inherited syndromes such as Fanconi anemia (FA). In this study, the clinical phenotype and its relationship with the presence of chromosomal abnormalities and FA were evaluated in 18 patients with VACTERL association. For this, a G-banded karyotype, array-comparative genomic hybridization, and chromosomal fragility test for FA were performed. All patients (10 female and 8 male) showed a broad clinical spectrum: 13 (72.2%) had vertebral abnormalities, 8 (44.4%) had anal atresia, 14 (77.8%) had heart defects, 8 (44.4%) had esophageal atresia, 10 (55.6%) had renal abnormalities, and 10 (55.6%) had limb defects. Chromosomal abnormalities and FA were ruled out. In 2 cases, the finding of microalterations, namely del(15)(q11.2) and dup(17)(q12), explained the phenotype; in 8 cases, copy number variations were classified as variants of unknown significance and as not yet described in VACTERL. These variants comprise genes related to important cellular functions and embryonic development. 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Phenotypic Characteristics and Copy Number Variants in a Cohort of Colombian Patients with VACTERL Association Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.<br /> Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.<br /> Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. VACTERL association (OMIM 192350) is a heterogeneous clinical condition characterized by congenital structural defects that include at least 3 of the following features: vertebral abnormalities, anal atresia, heart defects, tracheoesophageal fistula, renal malformations, and limb defects. The nonrandom occurrence of these malformations and some familial cases suggest a possible association with genetic factors such as chromosomal alterations, gene mutations, and inherited syndromes such as Fanconi anemia (FA). In this study, the clinical phenotype and its relationship with the presence of chromosomal abnormalities and FA were evaluated in 18 patients with VACTERL association. For this, a G-banded karyotype, array-comparative genomic hybridization, and chromosomal fragility test for FA were performed. All patients (10 female and 8 male) showed a broad clinical spectrum: 13 (72.2%) had vertebral abnormalities, 8 (44.4%) had anal atresia, 14 (77.8%) had heart defects, 8 (44.4%) had esophageal atresia, 10 (55.6%) had renal abnormalities, and 10 (55.6%) had limb defects. Chromosomal abnormalities and FA were ruled out. In 2 cases, the finding of microalterations, namely del(15)(q11.2) and dup(17)(q12), explained the phenotype; in 8 cases, copy number variations were classified as variants of unknown significance and as not yet described in VACTERL. These variants comprise genes related to important cellular functions and embryonic development. Array-CGH Chromosomal microalterations Congenital malformations Copy-number variants Fanconi anemia VACTERL association True https://www.karger.com/Article/FullText/510910#copyright Adobe PDF Library 15.0; modified using iTextSharp 4.1.6 by 1T3XT False Pages: Page: Label: 271 Sequence: 1 Page: Label: 272 Sequence: 2 Page: Label: 273 Sequence: 3 Page: Label: 274 Sequence: 4 Page: Label: 275 Sequence: 5 Page: Label: 276 Sequence: 6 Page: Label: 277 Sequence: 7 Page: Label: 278 Sequence: 8 Page: Label: 279 Sequence: 9 Page: Label: 280 Sequence: 10 Page: Label: 281 Sequence: 11 Page: Label: 282 Sequence: 12 Page: Label: 283 Sequence: 13 Checksum: 14d6c484 Type: CRC32 Checksum: acddbd5c3fd452087043b579f18fc2ad Type: MD5 Checksum: c100b37a7aca179c30eff7843a4ea757f8b30f91 Type: SHA-1