Τίτλος:
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
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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. © 2013 S. Karger AG, Basel.
Συγγραφείς:
Manolakos, E.
Vetro, A.
Papadopoulou, E.
Kefalas, K.
Lagou, M.
Thomaidis, L.
Peitsidis, P.
Sifakis, S.
Divane, A.
Ziegler, M.
Liehr, T.
Zuffardi, O.
Papoulidis, I.
Περιοδικό:
Cytogenetic and Genome Research
Λέξεις-κλειδιά:
anticoagulant agent, anticoagulant therapy; article; case report; child; chromosome 2; chromosome analysis; chromosome arm; chromosome breakage; chromosome deletion; chromosome duplication; chromosome insertion; clinodactyly; comparative genomic hybridization; cryptorchism; echocardiography; failure to thrive; family history; fluorescence in situ hybridization; growth retardation; human; hypertrophic cardiomyopathy; karyotyping; kidney failure; lymphocyte; magnetic resonance angiography; male; mental deficiency; molecular genetics; muscle hypotonia; paracentric chromosome inversion; partial monosomy; partial monosomy 2q; partial trisomy; partial trisomy 2p; pericentric chromosome inversion; preschool child; priority journal; protein C deficiency; psychomotor disorder; psychomotor retardation; ptosis; sagittal sinus thrombosis; small for date infant; stillbirth; thrombophilia; twin pregnancy; Article; autism; chromosome 2; chromosome insertion; chromosome rearrangement; clinical feature; congenital malformation; cytogenetics; disease severity; ear malformation; emotion; karyotype; palate disease; paracentric chromosome inversion; partial monosomy; partial monosomy 2p; partial trisomy; partial trisomy 2p; retrognathia; social behavior, Abnormal Karyotype; Cardiomyopathy, Hypertrophic; Child, Preschool; Chromosome Breakage; Chromosome Deletion; Chromosome Duplication; Chromosome Inversion; Chromosomes, Human, Pair 2; Comparative Genomic Hybridization; Humans; In Situ Hybridization, Fluorescence; Inheritance Patterns; Male; Pedigree; Psychomotor Disorders; Thrombophilia; Trisomy
