title: Array CGH detection of a novel cryptic deletion at 3q13 in a complex chromosome rearrangement.
abstract: Complex chromosome rearrangements (CCRs) are extremely rare in humans. About 20% of the apparently balanced CCRs have an abnormal phenotype and the degree of severity correlates with a higher number of breakpoints. Several studies using FISH and microarray technologies have shown that deletions in the breakpoints are common although duplications, insertions and inversions have also been detected. We report a patient with two simultaneous reciprocal translocations, t(3;4) and t(2;14;18), involving five chromosomes and six breakpoints. He showed dysmorphic features, preaxial polydactyly in the left hand, brachydactyly, postnatal growth retardation and developmental delay. The rearrangement was characterized by FISH analysis which detected an interstitial segment from chromosome 14 inserted in the derivative chromosome 2, and by whole genome array which revealed an interstitial deletion of approximately 4.5 Mb at the breakpoint site on chromosome 3. To our knowledge this microdeletion has not been previously reported and includes ~12 genes. The haploinsufficiency of one or several of these genes is likely to have contributed to the clinical phenotype of the patient.
authors.affiliation: Sección de Citogenética, Centro de Bioquímica y Genética Clínica, Hospital Clínico Universitario "Virgen de la Arrixaca", El Palmar, Murcia, Spain; Centro de Investigación Biomédica de Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain. Electronic address: isabel.lopez4@carm.es.
authors.forename: Isabel
authors.initials: I
authors.lastname: López-Expósito
authors.affiliation: Unidad de Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario "Virgen de la Arrixaca", El Palmar, Murcia, Spain; Centro de Investigación Biomédica de Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain.
authors.forename: María Juliana
authors.initials: MJ
authors.lastname: Ballesta-Martinez
authors.affiliation: Sección de Citogenética, Centro de Bioquímica y Genética Clínica, Hospital Clínico Universitario "Virgen de la Arrixaca", El Palmar, Murcia, Spain; Centro de Investigación Biomédica de Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain.
authors.forename: Juan Antonio
authors.initials: JA
authors.lastname: Bafalliu
authors.affiliation: Sección de Citogenética, Centro de Bioquímica y Genética Clínica, Hospital Clínico Universitario "Virgen de la Arrixaca", El Palmar, Murcia, Spain; Centro de Investigación Biomédica de Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain.
authors.forename: Ascensión
authors.initials: A
authors.lastname: Vera-Carbonell
authors.affiliation: Sección de Neuropediatría, Hospital Clínico Universitario "Virgen de la Arrixaca", El Palmar, Murcia, Spain; Centro de Investigación Biomédica de Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain.
authors.forename: Rosario
authors.initials: R
authors.lastname: Domingo-Jiménez
authors.affiliation: Unidad de Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario "Virgen de la Arrixaca", El Palmar, Murcia, Spain; Centro de Investigación Biomédica de Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain.
authors.forename: Vanesa
authors.initials: V
authors.lastname: López-González
authors.affiliation: Sección de Citogenética, Centro de Bioquímica y Genética Clínica, Hospital Clínico Universitario "Virgen de la Arrixaca", El Palmar, Murcia, Spain.
authors.forename: Asunción
authors.initials: A
authors.lastname: Fernández
authors.affiliation: Unidad de Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario "Virgen de la Arrixaca", El Palmar, Murcia, Spain; Centro de Investigación Biomédica de Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain; Cátedra de Genética Médica, Universidad Católica de San Antonio (UCAM), Murcia, Spain.
authors.forename: Encarna
authors.initials: E
authors.lastname: Guillén-Navarro
mesh_terms: D002675:Child, Preschool; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002883:Chromosomes, Human, Pair 14; D002889:Chromosomes, Human, Pair 2; D002893:Chromosomes, Human, Pair 3; D055028:Comparative Genomic Hybridization / Q000379:methods*; D005145:Face / Q000002:abnormalities; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D008297:Male; D017689:Polydactyly / Q000235:genetics; D014178:Translocation, Genetic
keywords: 3q13 deletion; Complex chromosome rearrangement; Oligo array-CGH