title: Detailed clinical description of four patients with 1.3 and 2.1 Mb chromosome imbalances derived from a familial t(12;17)(q24.33;q25.3).
abstract: We describe a family carrying a submicroscopic reciprocal translocation involving 12qter and 17qter detected by subtelomeric FISH analysis. Four family members inherited unbalanced variants-two cases inherited the derivative chromosome 12 and the other two the derivative chromosome 17. The two individuals with the derivative chromosome 17 showed a distinct phenotype with mild mental retardation in combination with multiple minor malformations, while the phenotype in the cases with the derivative chromosome 12 was milder and only partly concordant. Detailed FISH analysis using 19 BAC clones covering the distal part of chromosome 12q and 17q estimated the imbalances to 2.1 and 1.3 Mb, respectively. The clinical and cytogenetic findings of the two different genotypes are reported and discussed. This family illustrates that small chromosome imbalances can be detected in individuals with mild phenotype and normal, or near-normal, cognitive functions.
authors.affiliation: Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Institute, Stockholm, Sweden. Jacqueline.Schoumans@cmm.ki.se
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Schoumans
authors.forename: Gunnar
authors.initials: G
authors.lastname: Sanner
authors.forename: Magnus
authors.initials: M
authors.lastname: Nordenskjöld
authors.forename: Britt-Marie
authors.initials: BM
authors.lastname: Anderlid
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D014178:Translocation, Genetic