title: 22q11.2 Microduplication in a patient with 19p13.12-13.13 deletion.
abstract: BACKGROUND
  The chromosome 22q11.2 region microduplication has been described in patients with variable phenotypes. Here we present a 3-month-old girl with both 22q11.2 microduplication and 19p13.12-13.13 deletion. The presence of both genomic imbalances in one patient has not been previously reported in literature.
  
  
  METHODS
  A routine G-banding karyotype analysis was performed using peripheral lymphocytes. Chromosome microarray analysis (CMA) was done using Affymetrix CytoScan™ HD array.
  
  
  RESULTS
  The result of karyotyping showed that the patient is 46,XX,t(12;19)(q24.3;p13.1), but CMA detected a 2.8Mb microduplication within the region 22q11.2 (chr22: 18,648,866-21,465,659) and a 1.2Mb deletion on the chromosome 19at band p13.12-p13.13 (chr19: 13,107,938-14,337,347) in her genome, while no abnormalities were identified on 12q24.3. The 3-month-old girl presented with microcephaly, cleft palate, low set and retroverted ears, and facial dysmorphism which consisted of the following: a long narrow face, widely spaced eyes, downslanting palpebral fissures, broad nasal base, short philtrum, thin upper lip, and micro/retrognathia. She also had a congenital right pulmonary artery sling and tracheal stenosis and suffered from significant hypotonia and partial bilateral mixed hearing loss.
  
  
  CONCLUSIONS
  We report a case of 22q11.2 duplication syndrome with 19p13.12-13.13 deletion. Synergistic effect from the two genomic imbalances is likely responsible for the complicated clinical features observed in this patient.
authors.affiliation: Pediatric Intensive Care Unit, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, PRChina. Electronic address: ywang_picu@shsmu.edu.cn.
authors.forename: Ying
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Department of Internal Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, PRChina.
authors.forename: Yongguo
authors.initials: Y
authors.lastname: Yu
authors.affiliation: Pediatric Intensive Care Unit, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, PRChina.
authors.forename: Xiaowei
authors.initials: X
authors.lastname: Hu
authors.affiliation: Pediatric Intensive Care Unit, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, PRChina.
authors.forename: Biru
authors.initials: B
authors.lastname: Li
authors.affiliation: Pediatric Intensive Care Unit, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, PRChina. Electronic address: 18918831463@189.cn.
authors.forename: Juan
authors.initials: J
authors.lastname: Qian
mesh_terms: D000015:Abnormalities, Multiple / Q000209:etiology / Q000235:genetics*; D002872:Chromosome Deletion; D058674:Chromosome Duplication; D002888:Chromosomes, Human, Pair 19; D002892:Chromosomes, Human, Pair 22; D002972:Cleft Palate / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D006312:Hearing Loss, Bilateral / Q000235:genetics; D006801:Humans; D007223:Infant; D008831:Microcephaly / Q000235:genetics; D014135:Tracheal Stenosis / Q000235:genetics
keywords: 19p13.12–13.13 Deletion; CHD; CMA; ChAS; Chromosome Analysis Suite; DG/VCFS; DiGeorge/velocardiofacial syndrome; Hearing loss; LCRs; Microduplication 22q11.2; Right lung artery sling; Tracheal stenosis; VSD; chromosome microarray analysis; congenital heart disease; low-copy repeats; ventricular septal defect