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16q24.1 microdeletion

Tuesday 22 November 2011

Synopsis

 persistent pulmonary hypertension of the newborn
 multiple congenital malformations
 partial atrioventricular canal malformation
 bilateral dilation of the renal pelvocaliceal system with bilateral ureteral stenosis
 annular pancreas
 alveolar capillary dysplasia with misalignment of pulmonary veins

References

 16q24.1 microdeletion in a premature newborn: Usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn. Zufferey F, Martinet D, Osterheld MC, Niel-Bütschi F, Giannoni E, Schmutz NB, Xia Z, Beckmann JS, Shaw-Smith C, Stankiewicz P, Langston C, Fellmann F. Pediatr Crit Care Med. 2011 Nov;12(6):e427-e432. PMID: 21572369