Esophageal stenosis in a child presenting a de novo 7q terminal deletion

European Journal of Medical Genetics

Volumn 53, Issue 5, 2010, Pages 333-336

  Zen, Paulo R G ^a   Riegel, Mariluce ^b   Rosa, Rafael F M ^a   Pinto, Louise L C ^a   Graziadio, Carla ^a   Schwartz, Ida V D ^c   Paskulin, Giorgio A ^a  

^a UNIVERSIDADE FEDERAL DE CIÊNCIAS DA SAÚDE DE PORTO ALEGRE   (Brazil)

^b UNIVERSITY OF ZURICH   (Switzerland)

^c HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

Author keywords

7q terminal deletion; Array CGH; Esophageal stenosis; Sonic hedgehog gene; VACTERL

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; COLOBOMA; ESOPHAGUS STENOSIS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GROWTH RETARDATION; HEARING LOSS; HUMAN; HYPOPLASIA; INFANT; MICROARRAY ANALYSIS; MICROCEPHALY; MUSCLE HYPOTONIA; ODONTOID HYPOPLASIA; ODONTOID PROCESS; PHENOTYPE; PSYCHOMOTOR RETARDATION; PTOSIS; SACRUM AGENESIS; URINARY TRACT MALFORMATION;

ABNORMALITIES, MULTIPLE; ANAL CANAL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 7; COLOBOMA; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; ESOPHAGEAL STENOSIS; ESOPHAGUS; FEMALE; HEARING LOSS; HEART DEFECTS, CONGENITAL; HEDGEHOG PROTEINS; HUMANS; INFANT; KIDNEY; LIMB DEFORMITIES, CONGENITAL; MICROCEPHALY; SPINE; TRACHEA;

ANIMALIA; ERINACEIDAE;

EID: 77956912119     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2010.06.008     Document Type: Article

References (15)

1. Aguinaga M., Zenteno J.C., Pérez-Cano H., Morán V. Sonic hedgehog mutation analysis in patients with VACTERL association. Am. J. Med. Genet. Part A 2010, 152A:781-783.
2. Chen C.-P., Chern S.-R., Chang T.-Y., Tzen C.-Y., Lee C.-C., Chen W.-L., et al. Prenatal diagnosis of de novo terminal deletion of chromosome 7q. Prenat. Diagn. 2003, 23:375-379.
3. Feenstra I., Fang J., Koolen D.A., Siezen A., Evans C., Winter R.M., et al. European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities. Eur. J. Med. Genet. 2006, 49. 279e291.
4. Garcia-Barceló M.-M., Wong K.K.-Y., Lui V.C.-H., Yuan Z.-w., So M.-t., Ngan E.S.-w., et al. Identification of a HOXD13 mutation in a VACTERL patient. Am. J. Med. Genet. Part A 2008, 146A:3181-3185.
5. Hagan D.M., Ross A.J., Strachan T., Lynch S.A., Ruiz-Perez V., Wang Y.M., et al. Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene. Am. J. Hum. Genet. 2000, 66:1504-1515.
6. Horn D., Tönnies H., Neitzel H., Wahl D., Hinkel G.K., von Moers A., et al. Minimal clinical expression of the holoprosencephaly spectrum and of currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLBX9 gene at 7q36.3. Am. J. Med. Genet. Part A 2004, 128A:85-92.
7. Kim J.H., Kim P.C.W., Hui C.-c. The VACTERL association: lessons from the sonic hedgehog pathway. Clin. Genet. 2001, 59:306-315.
8. Litingtung Y., Lei L., Westphal H., Chiang C. Sonic hedgehog is essential to foregut development. Nat. Genet. 1998, 20:58-61.
9. Martínez-Frías M.L., Bermejo E., Frias J.L. The VACTERL association: lessons from the sonic hedgehog pathway. Clin. Genet. 2001, 60:397-398.
10. M. Masuno, K. Imaizumi, N. Aida, Y. Tanaka, K.I. Sekido, Y. Ohhama, et al. Currarino triad with a terminal deletion 7q35 → qter, J. Med. Genet. 33 (1996) 877-878.
11. Motoyama J., Liu J., Mo R., Ding Q., Post M., Hui C.-c. Essential function of Gli2 and Gli3 in the formation of lung, trachea and oesophagus. Nat. Genet. 1998, 20:54-57.
12. Online Mendelian Inheritance in Man, OMIM (TM). McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), 2007. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/.
13. Rodríguez L., Pérez I.C., Montes J.H., Jareño M.L.L., Grondona F.L., Martínez-Frías M.L. Terminal deletion of the chromosome 7(q36-qter) in an infant with sacral agenesis and anterior myelomeningocele. Am. J. Med. Genet. 2002, 110:73-77.
14. Savage N.M., Maclachlan N.A., Joyce C.A., Moore T.E., Crolla J.A. Isolated sacral agenesis in a fetus monosomic for 7q36.1-qter. J. Med. Genet. 1997, 34:866-868.
15. Spitz L. Oesophageal atresia. Orphanet. J. Rare Dis. 2007, 2:24.