A 12.4 Mb direct duplication in 19q12-q13 in a boy with cardiac and CNS malformations and developmental delay
Tóm tắt
The interstitial duplication of the long arm of chromosome 19 is a rare abnormality, characterized by developmental delay and dysmorphic features, also reported in association with cardiac, urinary, and CNS malformations. We describe a new case of de novo 19q12-q13.2 duplication characterized by fluorescent in situ hybridization (FISH) and array comparative genomic hybridization (CGH) and, by reviewing the data from previous articles, we report a tentative genotype/phenotype correlation. Four previously described cases showed the same or overlapping 19q duplications and shared with our patient common dysmorphisms, psychomotor retardation, and CNS malformations. The present description of a new case of 19q12-q13.2 duplication with a molecular cytogenetic and genomic characterization adds further elements to the understanding of the impact of the genomic segment on the phenotype.
Tài liệu tham khảo
Berg JS, Potocki L, Bacino CA (2010) Common recurrent microduplication syndromes: diagnosis and management in clinical practice. Am J Med Genet A 152A:1066–1078
Bhat M, Morrison PJ, Getty A, McManus D, Tubman R, Nevin NC (2000) First clinical case of small de novo duplication of 19q (13.3-13.4) confirmed by FISH. Am J Med Genet 91:201–203
Boyd E, Grass FS, Parke JC, Knutson K, Stevenson RE (1992) Duplication of distal 19q: clinical report and review. Am J Med Genet 42:326–330
Kulharya AS, Michaelis RC, Norris KS, Taylor HA, Garcia-Heras J (1998) Constitutional del(19)(q12q13.1) in a three-year-old girl with severe phenotypic abnormalities affecting multiple organ systems. Am J Med Genet 77:391–394
Malan V, Raoul O, Firth HV, Royer G, Turleau C, Bernheim A, Willatt L, Munnich A, Vekemans M, Lyonnet S, Cormier-Daire V, Colleaux L (2009) 19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation. J Med Genet 46:635–640
Palomares Bralo M, Delicado A, Lapunzina P, Velázquez Fragua R, Villa O, Angeles Mori M, Luisa de Torres M, Fernández L, Pérez Jurado LA, López Pajares I (2008) Direct tandem duplication in chromosome 19q characterized by array CGH. Eur J Med Genet 51:257–263
Qorri M, Oei P, Dockery H, McGaughran J (2002) A rare case of a de novo dup(19q) associated with a mild phenotype. J Med Genet 39:E61
Quack B, Van Roy N, Verschraegen-Spae MR, Klein F (1992) Interstitial deletion and ring chromosome derived from 19q. Proximal 19q trisomy phenotype. Ann Genet 35:241–244
Sauter SM, Böhm D, Bartels I, Burfeind P, Laccone FA, Neesen J, Wilken B, Liehr T, Zoll B (2007) Partial trisomy of distal 19q detected by quantitative real-time PCR and FISH in a girl with mild facial dysmorphism, hypotonia and developmental delay. Am J Med Genet A 143A:1091–1099
Schuurs-Hoeijmakers JHM, Vermeer S, van Bon BWM, Pfundt R, Marcelis C, de Brouwer APM, de Leeuw N, de Vries BBA (2009) Refining the critical region of the novel 19q13.11 microdeletion syndrome to 750 kb. J Med Genet 46:421–423
Zung A, Rienstein S, Rosensaft J, Aviram-Goldring A, Zadik Z (2007) Proximal 19q trisomy: a new syndrome of morbid obesity and mental retardation. Horm Res 67:105–110