Document Detail


16q24.1 microdeletion in a premature newborn: usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn.
MedLine Citation:
PMID:  21572369     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
DESIGN: Descriptive case report.
SETTING: Genetic department and neonatal intensive care unit of a tertiary care children's hospital.
INTERVENTIONS: None.
PATIENT: 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.
MEASUREMENTS AND MAIN 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:
Flore Zufferey; Danielle Martinet; Maria-Chiara Osterheld; Florence Niel-Bütschi; Eric Giannoni; Nathalie Besuchet Schmutz; Zhilian Xia; Jacques S Beckmann; Charles Shaw-Smith; Pawel Stankiewicz; Claire Langston; Florence Fellmann
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies     Volume:  12     ISSN:  1529-7535     ISO Abbreviation:  Pediatr Crit Care Med     Publication Date:  2011 Nov 
Date Detail:
Created Date:  2011-11-09     Completed Date:  2012-05-10     Revised Date:  2013-06-28    
Medline Journal Info:
Nlm Unique ID:  100954653     Medline TA:  Pediatr Crit Care Med     Country:  United States    
Other Details:
Languages:  eng     Pagination:  e427-32     Citation Subset:  IM    
Affiliation:
University Institute of Pathology, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics,  pathology
Chromosome Deletion*
Chromosomes, Human, Pair 16 / genetics*
Comparative Genomic Hybridization
Humans
Hypertension, Pulmonary / pathology*
Infant, Newborn
Karyotype
Male
Persistent Fetal Circulation Syndrome / genetics,  pathology*
Pulmonary Alveoli / abnormalities,  pathology
Pulmonary Veins / abnormalities*
Grant Support
ID/Acronym/Agency:
1 R01 HL101975-01/HL/NHLBI NIH HHS; R01 HL101975/HL/NHLBI NIH HHS
Comments/Corrections

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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