Maternally Inherited Partial Monosomy 9p (pter -> p24.1) and Partial Trisomy 20p (pter -> p12.1) Characterized by Microarray Comparative Genomic Hybridization

Author(s):Show less -

Freitas, Erika L. ^{[1, 2]} ; Gribble, Susan M. ^[3] ; Simioni, Milena ^[1] ; Vieira, Tarsis P. ^[1] ; Silva-Grecco, Roseane L. ^[4] ; Balarin, Marly A. S. ^[4] ; Prigmore, Elena ^[3] ; Krepischi-Santos, Ana C. ^{[2, 5]} ; Rosenberg, Carla ^[2] ; Szuhai, Karoly ^[6] ; van Haeringen, Arie ^[7] ; Carter, Nigel P. ^[3] ; Gil-da-Silva-Lopes, Vera Lucia ^[1]

Affiliation

^[1] Univ Campinas UNICAMP, Dept Med Genet, Fac Med Sci, Sao Paulo - Brazil

^[2] Univ Sao Paulo, Dept Genet & Evolutionary Biol, Biosci Inst, Sao Paulo - Brazil

^[3] Wellcome Trust Sanger Inst, Cambridge - England

^[4] Univ Fed Triangulo Mineiro, Dept Biol Sci, Uberaba, MG - Brazil

^[5] AC Camargo Hosp, Sao Paulo - Brazil

^[6] Leiden Univ, Med Ctr, Dept Mol Cell Biol, Leiden - Netherlands

^[7] Leiden Univ, Dept Clin Genet, Med Ctr, Leiden - Netherlands

• Document type: Journal article
• Source: AMERICAN JOURNAL OF MEDICAL GENETICS PART A; v. 155A, n. 11, p. 2754-2761, NOV 2011.
• Web of Science Citations: 9

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. (AU)

• FAPESP's process: 05/03480-7 - Genetic studies of midline facial defects with ocular hypertelorism
• Grantee: Vera Lúcia Gil da Silva Lopes
• Support Opportunities: Regular Research Grants