title: Partial trisomy 2p and partial monosomy 2q arising from a paternal intrachromosomal 2q-into-2p between-arm insertion and paracentric inversion: molecular cytogenetic characterization of a four-break rearrangement.
abstract: We report on a 26-month-old boy with an interstitial duplication of 2p22.3p22.2 and an interstitial deletion of 2q14.1q21.2. The abnormality was derived from his father having a balanced paracentric inversion and pericentric insertion. The deletion in the child was identified by cytogenetic analysis and characterized in more detail by molecular cytogenetics and array comparative genomic hybridization. The latter revealed a 20-Mb deletion in the long arm and a 5.6-Mb duplication in the short arm of chromosome 2. Fluorescence in situ hybridization in paternal chromosomes characterized an intrachromosomal insertion of 2q14.1q21.2 into 2p23; additionally a paracentric inversion of 2p13p23 was observed. The boy with the unbalanced karyotype suffered from severe psychomotor retardation, thrombophilia due to protein C deficiency, and hypertrophic cardiomyopathy and also had phenotypic abnormalities. Most of these features have previously been described in individuals with interstitial deletion of 2q14.1.
authors: Eurogenetica S.A., Laboratory of Genetics, Athens-Thessaloniki, Greece. emanolakosgr@yahoo.gr
authors: E
authors: E
authors: Manolakos
authors: A
authors: A
authors: Vetro
authors: E
authors: E
authors: Papadopoulou
authors: K
authors: K
authors: Kefalas
authors: M
authors: M
authors: Lagou
authors: L
authors: L
authors: Thomaidis
authors: P
authors: P
authors: Peitsidis
authors: S
authors: S
authors: Sifakis
authors: A
authors: A
authors: Divane
authors: M
authors: M
authors: Ziegler
authors: T
authors: T
authors: Liehr
authors: O
authors: O
authors: Zuffardi
authors: I
authors: I
authors: Papoulidis
mesh_terms: D059786:Abnormal Karyotype; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics; D002675:Child, Preschool; D019457:Chromosome Breakage; D002872:Chromosome Deletion; D058674:Chromosome Duplication; D007446:Chromosome Inversion / Q000235:genetics; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D055028:Comparative Genomic Hybridization / Q000379:methods*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D040582:Inheritance Patterns; D008297:Male; D010375:Pedigree; D011596:Psychomotor Disorders / Q000235:genetics; D019851:Thrombophilia / Q000235:genetics; D014314:Trisomy / Q000235:genetics*