title: Trisomy 1q32 and monosomy 11q25 associated with congenital heart defect: cytogenomic delineation and patient fourteen years follow-up.
abstract: BACKGROUND
  Partial duplication 1q is a rare cytogenetic anomaly frequently associated to deletion of another chromosome, making it difficult to define the precise contribution of the different specific chromosomal segments to the clinical phenotype.
  
  
  METHODS
  We report a clinical and cytogenomic study of a patient with multiple congenital anomalies, heart defect, neuromotordevelopment delay, intellectual disability, who presents partial trisomy 1q32 and partial monosomy 11q25 inherited from a paternal balanced translocation identified by chromosome microarray and fluorescence in situ hybridization.
  
  
  CONCLUSIONS
  Compared to patients from the literature, the patient's phenotype is more compatible to the 1q32 duplication's clinical phenotype, although some clinical features may also be associated to the deleted segment on chromosome 11. This is the smallest 11q terminal deletion ever reported and the first association between 1q32.3 duplication and 11q25 deletion in the literature.
authors.affiliation: Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
authors.forename: Vera Ayres
authors.initials: VA
authors.lastname: Meloni
authors.affiliation: Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
authors.forename: Sylvia Satomi
authors.initials: SS
authors.lastname: Takeno
authors.affiliation: Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
authors.forename: Ana Luiza
authors.initials: AL
authors.lastname: Pilla
authors.affiliation: Children's Interdisciplinary Neuropsychological Center, AFIP, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
authors.forename: Claudia Berlim
authors.initials: CB
authors.lastname: de Mello
authors.affiliation: Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
authors.forename: Maria Isabel
authors.initials: MI
authors.lastname: Melaragno
authors.affiliation: Department of Pathology, Cytogenomics Lab, LIM 03, Universidade de São Paulo, Av. Dr. Enéas de Carvalho Aguiar, 155, 2° andar, bloco 12, sala 7, São Paulo, SP, Brazil ; Human Reproduction and Genetics Center, Department of Collective Health, Faculdade de Medicina do ABC, Santo André, SP, Brazil.
authors.forename: Leslie Domenici
authors.initials: LD
authors.lastname: Kulikowski
keywords: Array; Clinical follow-up; Congenital heart defects; FISH; Intellectual disability; Partial deletion 11q; Partial duplication 1q