Home > D. Systemic pathology > Genetic and developmental anomalies > Chromosomal diseases > Microdeletion syndromes > 16q24.1 microdeletion

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-B├╝tschi 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