title: Two girls with a de novo Xq rearrangement of paternal origin: t(X;9)(q24;q12) or rea(X)dup q.
abstract: OBJECTIVE
  We report on two rare Xq rearrangements, namely a t(X;9)(q24;q12) found in a mildly-affected girl (Patient 1) and a rea(X)dup q concomitant with a rob(14;21)mat in a Down syndrome girl (Patient 2).
  
  
  METHODS
  Both rearrangements were characterized by banding techniques [Giemsa (G), constitutive heterochromatin (C), and bromodeoxyuridine (BrdU) pulse], fluorescence in situ hybridization (FISH) assays, human androgen receptor (HUMAR) assays, and microarray analyses. Patient 1 had a t(X;9)(q24;q12)dn. Patient 2 had a de novo rea(X)(qter→q23 or q24::p11.2→qter) concomitant with an unbalanced rob(14;21)mat. X-Inactivation studies in metaphases and DNA revealed a fully skewed inactivation: the normal homolog was silenced in Patient 1 and the rea(X) in Patient 2. Both rearranged X chromosomes were of paternal descent. Microarray analyses revealed no imbalances in Patient 1 whereas loss of Xp (∼52 Mb) and duplication of Xq (∼44 Mb) and 21q were confirmed in Patient 2.
  
  
  CONCLUSIONS
  Our observations further document the cytogenetic heterogeneity and predominant paternal origin of certain de novo X-chromosome rearrangements.
authors.affiliation: División de Genética, Centro de Investigación Biomédica de Occidente, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Mexico.
authors.forename: Ana I
authors.initials: AI
authors.lastname: Vásquez-Velásquez
authors.affiliation: División de Genética, Centro de Investigación Biomédica de Occidente, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Mexico; Departamento de Biología Molecular y Genómica, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Mexico.
authors.forename: Horacio
authors.initials: H
authors.lastname: Rivera
authors.affiliation: División de Medicina Molecular, Centro de Investigación Biomédica de Occidente, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Mexico; Doctorado en Genética Humana, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Mexico.
authors.forename: Ana G
authors.initials: AG
authors.lastname: Castro
authors.affiliation: División de Genética, Centro de Investigación Biomédica de Occidente, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Mexico.
authors.forename: Ana R
authors.initials: AR
authors.lastname: Jaloma-Cruz
authors.affiliation: División de Medicina Molecular, Centro de Investigación Biomédica de Occidente, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Mexico; Doctorado en Genética Humana, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Mexico.
authors.forename: Clara I
authors.initials: CI
authors.lastname: Juárez
authors.affiliation: Facultad de Biología, Centro Universitario de Ciencias Biológicas y Agropecuarias, Universidad de Guadalajara, Guadalajara, Mexico.
authors.forename: Irving J
authors.initials: IJ
authors.lastname: Lara-Navarro
authors.affiliation: Laboratorio de Citogenómica y Microarreglos, Departamento de Bioquímica y Medicina Molecular, Facultad de Medicina, Universidad Autónoma de Nuevo León, Monterrey, Mexico.
authors.forename: Carlos
authors.initials: C
authors.lastname: Córdova-Fletes
authors.affiliation: Laboratorio de Citogenómica y Microarreglos, Departamento de Bioquímica y Medicina Molecular, Facultad de Medicina, Universidad Autónoma de Nuevo León, Monterrey, Mexico.
authors.forename: Paul
authors.initials: P
authors.lastname: Mendoza-Pérez
authors.affiliation: División de Genética, Centro de Investigación Biomédica de Occidente, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Mexico. Electronic address: jose.elias.garcia@gmail.com.
authors.forename: José E
authors.initials: JE
authors.lastname: García-Ortiz
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D058674:Chromosome Duplication; D041321:Chromosomes, Human, X / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics; D004314:Down Syndrome / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D000072740:Paternal Inheritance; D000091402:Prohibitins; D012729:Sex Chromosome Aberrations; D014178:Translocation, Genetic
keywords: X-autosome translocation; Xq duplication; de novo; paternal descent; recombinant chromosome