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Type: Artigo de periódico
Title: Maternally Inherited Partial Monosomy 9p (pter -> p24.1) and Partial Trisomy 20p (pter -> p12.1) Characterized by Microarray Comparative Genomic Hybridization
Author: Freitas, EL
Gribble, SM
Simioni, M
Vieira, TP
Silva-Grecco, RL
Balarin, MAS
Prigmore, E
Krepischi-Santos, AC
Rosenberg, C
Szuhai, K
van Haeringen, A
Carter, NP
Gil-da-Silva-Lopes, VL
Abstract: We report on a 17-year-old patient with midline defects, ocular hypertelorism, neuropsychomotor development delay, neonatal macrosomy, and dental anomalies. DNA copy number investigations using a Whole Genome TilePath array consisting, of 30K BAC/PAC clones showed a 6.36 Mb deletion in the 9p24.1-p24.3 region and a 14.83 Mb duplication in the 20p12.1-p13 region, which derived from a maternal balanced t(9;20)(p24.1;p12.1) as shown by FISH studies. Monosomy 9p is a well-delineated chromosomal syndrome with characteristic clinical features, while chromosome 20p duplication is a rare genetic condition. Only a handful of cases of monosomy 9/trisomy 20 have been previously described. In this report, we compare the phenotype of our patient with those already reported in the literature, and discuss the role of DMRT, DOCK8, FOXD4, VLDLR, RSPO4, AVP, RASSF2, PROKR2, BMP2, MKKS, and JAG1, all genes mapping to the deleted and duplicated regions. (C) 2011 Wiley Periodicals, Inc.
Subject: multiple congenital anomalies
chromosomal aberration
monosomy 9p
trisomy 20p
Country: EUA
Editor: Wiley-blackwell
Rights: fechado
Identifier DOI: 10.1002/ajmg.a.34168
Date Issue: 2011
Appears in Collections:Unicamp - Artigos e Outros Documentos

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