title: Familial 14.5 Mb interstitial deletion 13q21.1-13q21.33: clinical and array-CGH study of a benign phenotype in a three-generation family.
abstract: We report on the clinical and cytogenetic findings as well as the array-based characterization of an interstitial familial 13q21 deletion initially recognized by standard karyotyping. Although 13q deletions are known to imply a wide variability of clinical consequences, the deletion carriers of the familial deletion in three generations did not reveal a relevant phenotype. The breakpoints and the deletion size in all three carrier individuals were determined by molecular karyotyping confirming a large 14.5 Mb deletion encompassing the 13q21.1-13q21.33 region identical in all three carriers. Gene paucity and the lack of dosage-sensitive genes in the delineated region might explain the apparently innocuous nature of this chromosomal anomaly. The example of this family presents evidence for describing the chromosomal region 13q21.1-13q21.33 as a large euchromatic variant or benign copy number variation without phenotypic consequences. Our data underline the importance of a phenogenetic approach combining clinical and laboratory evidence in the interpretation of segmental chromosomal anomalies especially in genetic counseling related to prenatal diagnosis.
authors.affiliation: Division of Medical Genetics, Department of Biomedicine, University Children's Hospital, Basel, Switzerland. isabel.filges@ukbb.ch
authors.forename: Isabel
authors.initials: I
authors.lastname: Filges
authors.forename: Benno
authors.initials: B
authors.lastname: Röthlisberger
authors.forename: Christoph
authors.initials: C
authors.lastname: Noppen
authors.forename: Nemya
authors.initials: N
authors.lastname: Boesch
authors.forename: Friedel
authors.initials: F
authors.lastname: Wenzel
authors.forename: Judith
authors.initials: J
authors.lastname: Necker
authors.forename: Franz
authors.initials: F
authors.lastname: Binkert
authors.forename: Andreas R
authors.initials: AR
authors.lastname: Huber
authors.forename: Karl
authors.initials: K
authors.lastname: Heinimann
authors.forename: Peter
authors.initials: P
authors.lastname: Miny
mesh_terms: D002675:Child, Preschool; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002882:Chromosomes, Human, Pair 13; D055028:Comparative Genomic Hybridization; D005192:Family Health; D018628:Gene Dosage; D006801:Humans; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D010641:Phenotype