title: The first case of a patient with de novo partial distal 16q tetrasomy and a data's review.
abstract: 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.
authors.affiliation: Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: Marzena
authors.initials: M
authors.lastname: Kucharczyk
authors.forename: Andrzej
authors.initials: A
authors.lastname: Kochański
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Jezela-Stanek
authors.forename: Monika
authors.initials: M
authors.lastname: Kugaudo
authors.forename: Danuta
authors.initials: D
authors.lastname: Sielska-Rotblum
authors.forename: Anna
authors.initials: A
authors.lastname: Gutkowska
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Krajewska-Walasek
mesh_terms: D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D018628:Gene Dosage / Q000235:genetics; D020440:Gene Duplication / Q000235:genetics; D056726:Genetic Association Studies / Q000379:methods; D005817:Genetic Counseling / Q000379:methods; D006801:Humans; D008297:Male; D058670:Tetrasomy / Q000235:genetics*; D014314:Trisomy / Q000235:genetics
keywords: 16q24.1-q24.3 duplication-triplication pattern; complex genomic rearrangement; congenital malformations; dysmorphic features; intellectual disability; partial distal 16q trisomy/tetrasomy