title: Partial and complete trisomy 14 mosaicism: clinical follow-up, cytogenetic and molecular analysis.
abstract: BACKGROUND
  Trisomy 14 mosaicism is a rare chromosomal abnormality. It is associated with multiple congenital anomalies. We report a 15 year-old female with an unusual karyotype with three cell lines: 47,XX,+mar/47,XX,+14/46,XX. At six months old she had short stature, cleft palate, hyperpigmented linear spots in arms and legs and developmental delay. At present, she has mild facial dysmorphism and moderate mental retardation.
  
  
  METHODS
  Cytogenetic analysis was performed in peripheral blood lymphocytes and in the light and dark skin following standard methods. DNAarray - Oligo 180 k was carried out using Agilent Technologies and FISH analysis was accomplished using DNA BACs probes to confirm the result obtained by DNAarray. Methylation-Specific PCR (MS-PCR) of the MEG3 promoter and microsatellite analysis were performed.
  
  
  RESULTS
  Microarray analysis confirmed partial trisomy 14 mosaicism; the marker chromosome was found to be from chromosome 14, the result was confirmed with FISH. Methylation (14q32.3) and microsatellite (14q11-14q32.33) analysis were carried out and UPD was discarded. The global result was: mos 47,XX,+del(14)(q11.2)[45]/47,XX,+14[10]/46,XX[45].
  
  
  CONCLUSIONS
  This is a unique case because of the coexistence of two abnormal cell lines, including one with +14 and another with +del(14)(q11.2). To our knowledge, only three patients have been reported with trisomy 14 and another abnormal cell line. The array analysis identified the marker chromosome and characterized the breakpoint. The del(14)(q11.2) does not seem to be related to any particular phenotypic characteristic of the patient; the clinical features of our patient observed until now, can be attributed to trisomy 14 mosaicism. Nevertheless, we cannot discard the manifestation of new symptoms related to her karyotype in the future.
authors.affiliation: Departamento de Genética Humana, Laboratorio de Cultivo de Tejidos, Instituto Nacional de Pediatría, Insurgentes Sur 3700-C, México, DF C.P. 04530 Mexico.
authors.forename: Consuelo
authors.initials: C
authors.lastname: Salas-Labadía
authors.affiliation: Departamento de Genética Humana, Instituto Nacional de Pediatría, México, DF Mexico.
authors.forename: Esther
authors.initials: E
authors.lastname: Lieberman
authors.affiliation: Departamento de Genética Humana, Laboratorio de Cultivo de Tejidos, Instituto Nacional de Pediatría, Insurgentes Sur 3700-C, México, DF C.P. 04530 Mexico.
authors.forename: Roberto
authors.initials: R
authors.lastname: Cruz-Alcívar
authors.affiliation: Departamento de Genética Humana, Laboratorio de Cultivo de Tejidos, Instituto Nacional de Pediatría, Insurgentes Sur 3700-C, México, DF C.P. 04530 Mexico.
authors.forename: Pilar
authors.initials: P
authors.lastname: Navarrete-Meneses
authors.affiliation: Departamento de Genética Humana, Instituto Nacional de Pediatría, México, DF Mexico.
authors.forename: Samuel
authors.initials: S
authors.lastname: Gómez
authors.affiliation: GENOMI-k, Monterrey, NL Mexico.
authors.forename: Consuelo
authors.initials: C
authors.lastname: Cantú-Reyna
authors.affiliation: Institut für Humangenetik Universitätsklinikum, Essen, Germany.
authors.forename: Karin
authors.initials: K
authors.lastname: Buiting
authors.affiliation: Servicio de Dermatología, Instituto Nacional de Pediatría, México, DF Mexico.
authors.forename: Carola
authors.initials: C
authors.lastname: Durán-McKinster
authors.affiliation: Departamento de Genética Humana, Laboratorio de Cultivo de Tejidos, Instituto Nacional de Pediatría, Insurgentes Sur 3700-C, México, DF C.P. 04530 Mexico.
authors.forename: Patricia
authors.initials: P
authors.lastname: Pérez-Vera
keywords: Deletion 14q11.2; Marker chromosome 14; Microarray analysis; Trisomy 14 mosaicism