The first case of a patient with de novo partial distal 16q tetrasomy and a data's review4. Issue 10 (8th August 2014)

• Record Type: Journal Article
• Authors: Kucharczyk, Marzena; Kochański, Andrzej; Jezela‐Stanek, Aleksandra; Kugaudo, Monika; Sielska‐Rotblum, Danuta; Gutkowska, Anna; Krajewska‐Walasek, Małgorzata
• Is Part Of: American journal of medical genetics. Volume 164:Issue 10(2014.)
• Page Start: 2541
• Page End: 2550
• Publication Date: 2014-08-08
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36686
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga36686-sec-0001" sec-type="section"> <p>We report on a patient with severe psychomotor disability, numerous dysmorphic features, and congenital malformations resulting from a complex genomic rearrangement on 16q24.1‐q24.3 involving a de novo duplication‐triplication pattern. To the best of our knowledge, this is the first reported patient presenting with this aberration within the distal chromosome 16q. We suggest that the clinical phenotype of our patient results from over‐dosage of genes mapped to the region with duplication/triplication (five genes: <italic>FOXF1</italic>, <italic>FOXC2</italic>, <italic>ANKRD11</italic>, <italic>SPG7</italic> and <italic>FANCA</italic> seem to play a peculiar role). Detailed molecular characterization and documentation of the complex genomic rearrangement observed in the proband and of the clinical presentation are important for accurate genotype‐phenotype correlations in genetic counseling. Delineation of the gene map for the terminal region of chromosome 16q will provide insight into this chromosome 16q24.1‐q24.3 contiguous gene duplication‐triplication syndrome. © 2014 Wiley Periodicals, Inc.</p> </sec> </abstract>