You are viewing a javascript disabled version of the site. Please enable Javascript for this site to function properly.
Go to headerGo to navigationGo to searchGo to contentsGo to footer
In content section. Select this link to jump to navigation

Journal of Pediatric Genetics - Volume 1, issue 2

Purchase individual online access for 1 year to this journal.

Price: EUR N/A
Journal of Pediatric Genetics is an English multidisciplinary peer-reviewed international journal publishing articles on all aspects of genetics in childhood and of the genetics of experimental models. These topics include clinical genetics, molecular genetics, biochemical genetics, formal genetics, neuropsychiatric genetics, behavioral genetics, community genetics, cytogenetics, hereditary or syndromic cancer genetics, genetic mapping, reproductive genetics, fetal pathology and prenatal diagnosis, multiple congenital anomaly syndromes, and molecular embryology of birth defects.

The Journal of Pediatric Genetics provides an in-depth update on new subjects, and current comprehensive coverage of the latest techniques in the diagnosis of childhood genetics. Journal of Pediatric Genetics encourages submissions from all authors throughout the world.

The following articles will be considered for publication: editorials, original and review articles, short report, rapid communications, case reports, letters to the editor, and book reviews. The aim of the journal is to share and disseminate knowledge between all disciplines that work in the field of pediatric genetics.
results per page

Duplication 3q13.11q23: Longitudinal study in a patient over a period of more than 7 years and refinements of the breakpoints

Authors: Eggermann, Thomas | Spengler, Sabrina | Gamerdinger, Ulrike | Denecke, Bernd | Grimm, Silke | Grimm, Manfred | Schubert, Regine | Schwanitz, Gesa

Article Type: Research Article

Abstract: In 2006, we reported the first case with a pure duplication of proximal 3q. In these rare aberrations, detailed clinical and developmental investigations at different ages are required to provide sufficient phenotypic documentation. Clinical and psychological differences were therefore regularly documented in our case. Supplemental genetic investigations comprised conventional karyotyping, fluorescence in-situ hybridization, single nucleotide polymorphism array analysis, and microsatellite typing. Thus, the exact position and extension of the duplication (3q13.11q23), the size (35.6 Mb), and the paternal origin could be determined. The development of our patient was followed up in detail over a period of 7.5 yr and thus … Show more

Keywords: Duplication 3q13.11q23, de novo, longitudinal studies, phenotype specification, developmental differences

DOI: 10.3233/PGE-2012-023

Citation: Journal of Pediatric Genetics, vol. 1, no. 2, pp. 143-147, 2012

Price: EUR 27.50