Premium
The first case of a patient with de novo partial distal 16q tetrasomy and a data's review
Author(s) -
Kucharczyk Marzena,
Kochański Andrzej,
JezelaStanek Aleksandra,
Kugaudo Monika,
SielskaRotblum Danuta,
Gutkowska Anna,
KrajewskaWalasek Małgorzata
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36686
Subject(s) - gene duplication , genetics , tetrasomy , biology , chromosome , proband , phenotype , gene , cytogenetics , mutation
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: FOXF1 , FOXC2 , ANKRD11 , SPG7 and FANCA 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.