title: Combined Dup(7)(q22.1q32.2), Inv(7)(q31.31q31.33), and Ins(7;19)(q22.1;p13.2p13.2) in a 12-year-old boy with developmental delay and various dysmorphism.
abstract: De novo combined duplications/inversions are very rare chromosomal rearrangements. For chromosome 7 just some dozen cases of duplications of various parts of the long arm have been published. We report on a 12-year-old boy with muscular hypotonia, global developmental delay, short stature, and various facial dysmorphism including frontal bossing, temporal narrowing, slightly down-slanting palpebral fissures, a broad nasal root, a long philtrum, a thin and tented upper lip, a drooping lower lip, micrognathia, prominent ears, a short neck, and a low posterior hairline. Karyotype analysis and molecular investigations revealed a complex de novo chromosomal rearrangement on 7q. FISH analysis with locus specific YACs and BACs and SNP array with the Illumina(®) HumanOmni1-Quad v1.0 BeadChip disclosed a direct duplication in the long arm of chromosome 7 (q22.1→q32.2) and an inversion located at the breakpoint between the two copies of the duplication (q31.31→q31.33). In addition, breakpoint characterization at the molecular level revealed a 386 bp insertion carrying two Alu elements of chromosome 19p13.2 between the two copies of the duplication. By a comparison of the SNP haplotypes of the derivative chromosome of the patient and both parents a two-step formation during spermatogenesis was suggested as the most likely mechanism of formation.
authors.affiliation: Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Schoepfstr. 41, A-6020 Innsbruck, Austria.
authors.forename: Anne
authors.initials: A
authors.lastname: Frühmesser
authors.forename: Martin
authors.initials: M
authors.lastname: Erdel
authors.forename: Hans-Christoph
authors.initials: HC
authors.lastname: Duba
authors.forename: Christine
authors.initials: C
authors.lastname: Fauth
authors.forename: Albert
authors.initials: A
authors.lastname: Amberger
authors.forename: Gerd
authors.initials: G
authors.lastname: Utermann
authors.forename: Johannes
authors.initials: J
authors.lastname: Zschocke
authors.forename: Dieter
authors.initials: D
authors.lastname: Kotzot
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D020087:Alu Elements; D002648:Child; D002869:Chromosome Aberrations; D056905:Chromosome Breakpoints; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide
keywords: Complex rearrangement; Duplication; Inversion; SNP array