title: Familial imbalance in 16p13.11 leads to a dosage compensation rearrangement in an unaffected carrier.
abstract: BACKGROUND
  We and others have previously reported that familial cytogenetic studies in apparently de novo genomic imbalances may reveal complex or uncommon inheritance mechanisms.
  
  
  METHODS
  A familial, combined genomic and cytogenetic approach was systematically applied to the parents of all patients with unbalanced genome copy number changes.
  
  
  RESULTS
  Discordant array-CGH and FISH results in the mother of a child with a prenatally detected 16p13.11 interstitial microduplication disclosed a balanced uncommon rearrangement in this chromosomal region. Further dosage and haplotype familial studies revealed that both the maternal grandfather and uncle had also the same 16p duplication as the proband. Genomic compensation observed in the mother probably occurred as a consequence of interchromosomal postzygotic nonallelic homologous recombination.
  
  
  CONCLUSIONS
  We emphasize that such a dualistic strategy is essential for the full characterization of genomic rearrangements as well as for appropriate genetic counseling.
authors.affiliation: Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ, Hospital Universitario La Paz, Paseo de la Castellana 261, 28046, Madrid, Spain. alicia.delicado@salud.madrid.org.|CIBER de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain. alicia.delicado@salud.madrid.org.
authors.forename: Alicia
authors.initials: A
authors.lastname: Delicado
authors.affiliation: Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ, Hospital Universitario La Paz, Paseo de la Castellana 261, 28046, Madrid, Spain. lfernandezg@salud.madrid.org.|CIBER de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain. lfernandezg@salud.madrid.org.
authors.forename: Luis
authors.initials: L
authors.lastname: Fernández
authors.affiliation: Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ, Hospital Universitario La Paz, Paseo de la Castellana 261, 28046, Madrid, Spain. marialuisa.torres@salud.madrid.org.|CIBER de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain. marialuisa.torres@salud.madrid.org.
authors.forename: María Luisa
authors.initials: ML
authors.lastname: de Torres
authors.affiliation: Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ, Hospital Universitario La Paz, Paseo de la Castellana 261, 28046, Madrid, Spain. jnevado@salud.madrid.org.|CIBER de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain. jnevado@salud.madrid.org.
authors.forename: Julián
authors.initials: J
authors.lastname: Nevado
authors.affiliation: Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ, Hospital Universitario La Paz, Paseo de la Castellana 261, 28046, Madrid, Spain. feamalia.garcia@salud.madrid.org.|CIBER de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain. feamalia.garcia@salud.madrid.org.
authors.forename: Fe Amalia
authors.initials: FA
authors.lastname: García-Santiago
authors.affiliation: Servicio de Fisiopatología Fetal, Hospital Universitario La Paz, Madrid, Spain. rrodriguezg1@gmail.com.
authors.forename: Roberto
authors.initials: R
authors.lastname: Rodríguez
authors.affiliation: Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ, Hospital Universitario La Paz, Paseo de la Castellana 261, 28046, Madrid, Spain. elena.mansilla@salud.madrid.org.|CIBER de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain. elena.mansilla@salud.madrid.org.
authors.forename: Elena
authors.initials: E
authors.lastname: Mansilla
authors.affiliation: Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ, Hospital Universitario La Paz, Paseo de la Castellana 261, 28046, Madrid, Spain. maria.palomares@salud.madrid.org.|CIBER de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain. maria.palomares@salud.madrid.org.
authors.forename: María
authors.initials: M
authors.lastname: Palomares
authors.affiliation: Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ, Hospital Universitario La Paz, Paseo de la Castellana 261, 28046, Madrid, Spain. fernando.santos@salud.madrid.org.|CIBER de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain. fernando.santos@salud.madrid.org.
authors.forename: Fernando
authors.initials: F
authors.lastname: Santos-Simarro
authors.affiliation: Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ, Hospital Universitario La Paz, Paseo de la Castellana 261, 28046, Madrid, Spain. elena.vallespin@salud.madrid.org.|CIBER de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain. elena.vallespin@salud.madrid.org.
authors.forename: Elena
authors.initials: E
authors.lastname: Vallespín
authors.affiliation: Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ, Hospital Universitario La Paz, Paseo de la Castellana 261, 28046, Madrid, Spain. mangeles.mori@salud.madrid.org.|CIBER de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain. mangeles.mori@salud.madrid.org.
authors.forename: María Ángeles
authors.initials: MÁ
authors.lastname: Mori
authors.affiliation: Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ, Hospital Universitario La Paz, Paseo de la Castellana 261, 28046, Madrid, Spain. pablo.lapunzina@salud.madrid.org.|CIBER de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain. pablo.lapunzina@salud.madrid.org.
authors.forename: Pablo
authors.initials: P
authors.lastname: Lapunzina
mesh_terms: D002675:Child, Preschool; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D000013:Congenital Abnormalities / Q000235:genetics*; D004303:Dosage Compensation, Genetic; D005260:Female; D020440:Gene Duplication; D006580:Genetic Carrier Screening; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D014178:Translocation, Genetic