Trisomy 20q caused by interstitial duplication 20q13.2: Clinical report and literature review Export

@article{citeulike:3081789, abstract = {We report on a 3-year-old boy with moderate developmental delay, abnormal craniofacial features and ventricular septal defect resulting from trisomy of the long arm of chromosome 20. The cytogenetic defect consists of a de novo isolated interstitial duplication in distal 20q [dup(20)(q13.2q13.2)]. The duplication was detected by comparative genomic hybridization (CGH) and confirmed by array CGH. Other cases of comparable trisomies are reviewed. This new case further delineates the recognizable phenotype of trisomy 20q13 rarr 20qter and highlights the relevance of CGH for the detection of such rearrangements. {\copyright} 2008 Wiley-Liss, Inc.}, address = {CHU Clermont-Ferrand, Service de Biochimie Biologie Mol\'{e}culaire, Clermont-Ferrand, France; Univ Clermont 1, Facult\'{e} de M\'{e}decine, Clermont-Ferrand, France; CHU Clermont-Ferrand, Service de Cytog\'{e}n\'{e}tique M\'{e}dicale, Clermont-Ferrand, France; CHU Clermont-Ferrand, Service de G\'{e}n\'{e}tique M\'{e}dicale, Clermont-Ferrand, France}, author = {Blanc, Pierre and Gouas, Laetitia and Francannet, Christine and Giollant, Michel and Vago, Philippe and Goumy, Carole}, citeulike-article-id = {3081789}, citeulike-linkout-0 = {http://dx.doi.org/10.1002/ajmg.a.32278}, citeulike-linkout-1 = {http://www3.interscience.wiley.com/cgi-bin/abstract/117952606/ABSTRACT}, doi = {10.1002/ajmg.a.32278}, journal = {American Journal of Medical Genetics Part A}, keywords = {20q, cgh, review}, number = {10}, pages = {1307--1311}, posted-at = {2008-08-04 16:27:54}, priority = {2}, title = {Trisomy 20q caused by interstitial duplication 20q13.2: Clinical report and literature review}, url = {http://dx.doi.org/10.1002/ajmg.a.32278}, volume = {146A}, year = {2008} }

TY - JOUR ID - citeulike:3081789 L3 - citeulike-article-id:3081789 N2 - We report on a 3-year-old boy with moderate developmental delay, abnormal craniofacial features and ventricular septal defect resulting from trisomy of the long arm of chromosome 20. The cytogenetic defect consists of a de novo isolated interstitial duplication in distal 20q [dup(20)(q13.2q13.2)]. The duplication was detected by comparative genomic hybridization (CGH) and confirmed by array CGH. Other cases of comparable trisomies are reviewed. This new case further delineates the recognizable phenotype of trisomy 20q13 rarr 20qter and highlights the relevance of CGH for the detection of such rearrangements. © 2008 Wiley-Liss, Inc. IS - 10 JF - American Journal of Medical Genetics Part A AD - CHU Clermont-Ferrand, Service de Biochimie Biologie Moléculaire, Clermont-Ferrand, France; Univ Clermont 1, Faculté de Médecine, Clermont-Ferrand, France; CHU Clermont-Ferrand, Service de Cytogénétique Médicale, Clermont-Ferrand, France; CHU Clermont-Ferrand, Service de Génétique Médicale, Clermont-Ferrand, France EP - 1311 TI - Trisomy 20q caused by interstitial duplication 20q13.2: Clinical report and literature review VL - 146A SP - 1307 KW - 20q KW - cgh KW - review AU - Blanc, Pierre AU - Gouas, Laetitia AU - Francannet, Christine AU - Giollant, Michel AU - Vago, Philippe AU - Goumy, Carole PY - 2008/// UR - http://dx.doi.org/10.1002/ajmg.a.32278 ER -