title: 16q24.1 microdeletion in a premature newborn: usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn.
abstract: OBJECTIVE
  Report of a 16q24.1 deletion in a premature newborn, demonstrating the usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn and multiple congenital malformations.
  
  
  METHODS
  Descriptive case report.
  
  
  METHODS
  Genetic department and neonatal intensive care unit of a tertiary care children's hospital.
  
  
  METHODS
  None.
  
  
  METHODS
  We report the case of a preterm male infant, born at 26 wks of gestation. A cardiac malformation and bilateral hydronephrosis were diagnosed at 19 wks of gestation. Karyotype analysis was normal, and a 22q11.2 microdeletion was excluded by fluorescence in situ hybridization analysis. A cesarean section was performed due to fetal distress. The patient developed persistent pulmonary hypertension unresponsive to mechanical ventilation and nitric oxide treatment and expired at 16 hrs of life.
  
  
  RESULTS
  An autopsy revealed partial atrioventricular canal malformation and showed bilateral dilation of the renal pelvocaliceal system with bilateral ureteral stenosis and annular pancreas. Array-based comparative genomic hybridization analysis (Agilent oligoNT 44K, Agilent Technologies, Santa Clara, CA) showed an interstitial microdeletion encompassing the forkhead box gene cluster in 16q24.1. Review of the pulmonary microscopic examination showed the characteristic features of alveolar capillary dysplasia with misalignment of pulmonary veins. Some features were less prominent due to the gestational age.
  
  
  CONCLUSIONS
  Our review of the literature shows that alveolar capillary dysplasia with misalignment of pulmonary veins is rare but probably underreported. Prematurity is not a usual presentation, and histologic features are difficult to interpret. In our case, array-based comparative genomic hybridization revealed a 16q24.1 deletion, leading to the final diagnosis of alveolar capillary dysplasia with misalignment of pulmonary veins. It emphasizes the usefulness of array-based comparative genomic hybridization analysis as a diagnostic tool with implications for both prognosis and management decisions in newborns with refractory persistent pulmonary hypertension and multiple congenital malformations.
authors.affiliation: University Institute of Pathology, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.
authors.forename: Flore
authors.initials: F
authors.lastname: Zufferey
authors.forename: Danielle
authors.initials: D
authors.lastname: Martinet
authors.forename: Maria-Chiara
authors.initials: MC
authors.lastname: Osterheld
authors.forename: Florence
authors.initials: F
authors.lastname: Niel-Bütschi
authors.forename: Eric
authors.initials: E
authors.lastname: Giannoni
authors.forename: Nathalie Besuchet
authors.initials: NB
authors.lastname: Schmutz
authors.forename: Zhilian
authors.initials: Z
authors.lastname: Xia
authors.forename: Jacques S
authors.initials: JS
authors.lastname: Beckmann
authors.forename: Charles
authors.initials: C
authors.lastname: Shaw-Smith
authors.forename: Pawel
authors.initials: P
authors.lastname: Stankiewicz
authors.forename: Claire
authors.initials: C
authors.lastname: Langston
authors.forename: Florence
authors.initials: F
authors.lastname: Fellmann
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D002872:Chromosome Deletion; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D006801:Humans; D006976:Hypertension, Pulmonary / Q000473:pathology*; D007231:Infant, Newborn; D059785:Karyotype; D008297:Male; D010547:Persistent Fetal Circulation Syndrome / Q000235:genetics / Q000473:pathology*; D011650:Pulmonary Alveoli / Q000002:abnormalities / Q000473:pathology; D011667:Pulmonary Veins / Q000002:abnormalities*