The spectrum of pulmonary malformation in Trisomy-21 patient. A review with emphasis on the molecular-genetic basis

Fetal and Pediatric Pathology

Volumn 32, Issue 1, 2013, Pages 38-42

  Salinas, Mark ^a   Elawabdeh, Nancy ^a   Lin, Jenny ^a   Naguib, Mina M ^a   Hodge, Melissa G ^a   Shehata, Bahig M ^a  

^a Children's Healthcare of Atlanta ^*  (United States)

Author keywords

Airway anomalies; Down syndrome; Gene overexpression; Phenotypes; Respiratory tract

Indexed keywords

BRONCHOMALACIA; DOWN SYNDROME; ETIOLOGY; GENE OVEREXPRESSION; HUMAN; LARYNGOMALACIA; LUNG MALFORMATION; MOLECULAR GENETICS; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SLEEP DISORDERED BREATHING; TRACHEOBRONCHOMALACIA; TRACHEOMALACIA; TRISOMY 21; GENETICS; PATHOLOGY; RESPIRATORY TRACT MALFORMATION;

DOWN SYNDROME; HUMANS; RESPIRATORY SYSTEM ABNORMALITIES;

EID: 84870980194     PISSN: 15513815     EISSN: 15513823     Source Type: Journal    
DOI: 10.3109/15513815.2012.659415     Document Type: Review

References (18)

1. Bertrand P,Navarro H,Caussade S,Holmgren N, Śanchez I. Airwayanomalies in childrenwithDown syndrome: Endoscopic findings. Pediatr Pulmonol 36(2):137-41, 2003.
2. Byard RW. Forensic issues in Down syndrome fatalities. J Forensic Leg Med 14(8):475-81, 2007. Epub 2007Mar 26. Review.
3. Tomlinson TW, Scott CH, Trotman HL. Congenital cardiovascular lesions in children with trisomy 21 at the Bustamante Hospital for Children. Cardiol Young 20(3):327-31, 2010. Epub 2010March 22.
4. Kuhn DE, Nuovo GJ, Martin MM, Malana GE, Pleister AP, Jiang J, Schmittgen TD, Terry AV Jr, Gardiner K,Head E, Feldman DS, Elton TS.Human chromosome 21-derivedmiRNAs are overexpressed in down syndrome brains and hearts. Biochem Biophys Res Commun 370(3):473-7, 2008. Epub 2008 April 1.
5. Lyle R, B́ena F, Gagos S, et al. Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. Eur J Hum Genet 17(4):454-66, 2009. Epub 2008 Nov 12.
6. McDowell KM, Craven DI. Pulmonary complications of Down syndrome during childhood. J Pediatr 158(2):319-25, 2011. Epub 2010 Sep 16.
7. Elton TS, SansomSE,Martin MM. Trisomy-21 gene dosage over-expression of miRNAs results in the haploinsufficiency of specific target proteins. RNA Biol 7(5):540-7, 2010. Epub 2010 Sept 1.
8. Pandit C, Fitzgerald DA. Respiratory problems in children with Down syndrome. J Paediatr Child Health 48(3):E147-52,Mar 2012.
9. Shott SR. Down syndrome: Common otolaryngologic manifestations. Am J Med Genet C Semin Med Genet 142C(3):131-40, 2006. Review.
10. Majid A, Fern'andez L, Fern'andez-Bussy S, Herth F, Ernst A. Tracheobronchomalacia. Arch Bronconeumol 46(4):196 - 202, 2010. Epub 2009 Dec 9. Review.
11. BaratM, Konrad HR. Tracheal bronchus. Am J Otolaryngol 8(2):118-22, 1987.
12. Lall M, Thakur S, Puri R, Verma I, Mukerji M, Jha P. A 54 Mb 11qter duplication and 0.9 Mb 1q44 deletion in a child with laryngomalacia and agenesis of corpus callosum. Mole Cytogenet 4:19, 2011.
13. Doherty ES, Solomon BD, Lacbawan F. 2q37 Deletion Syndrome, 2007May 3. In: Pagon RA, Bird TD, Dolan CR, et al., editors, GeneReviewsTM [Internet]. Seattle (WA): University ofWashington, Seattle; 1993.
14. Biko DM, SchwartzM, Anupindi SA, Altes TA. Subpleural lung cysts in Down syndrome: Prevalence and association with coexisting diagnoses. Pediatr Radiol 38(3):280-4, 2008. Epub 2007 Dec 20.
15. Gonzalez OR, Gomez IG, Recalde AL, Landing BH. Postnatal development of the cystic lung lesion of Down syndrome: Puggestion that the cause is reduced formation of peripheral air spaces. Pediatr Pathol 11(4):623-33, 1991.
16. Gyves-Ray K, Kirchner S, Stein S, Heller R, Hernanz-Schulman M. Cystic lung disease in Down syndrome. Pediatr Radiol 24(2):137-8, 1994. Review.
17. Cua CL, Blankenship A, North AL, Hayes J, Nelin LD. Increased incidence of idiopathic persistent pulmonary hypertension inDown syndrome neonates. Pediatr Cardiol 28(4):250-4, 2007. Epub 2007 May 5.
18. Shehata BM, Abramowsky CR. Alveolar capillary dysplasia in an infant with trisomy 21. Pediatr Dev Pathol 8(6):696-700, 2005. Epub 2005 Oct 18.