Gastrointestinal Malformation in Genetic Disorders: A Case of Partial Trisomy 2q With Short Esophagus and Tubular Stomach

Patterson K. , Toomey KE , Chandra RS Hirschsprung disease in a 46,XY phenotypic infant girl with Smith-Lemli-Opitz syndrome. J Pediatr 1983; 103:425-7.

Fried K. , Beer S. Waardenburg's syndrome and Hirschsprung's disease in the same patient. Clin Genet (letter to the editor) 1980; 18:91-2.

Schinzel A. Catalogue of Unbalanced Chromosome Aberrations in Man. Berlin: de Gruyter, 1983.

Ricci N. , Dallapiccola B. , Cotti G. Translocation 2-D familiale. Ann Genet ( Paris) 1968; 11:111-3.

Yu CW , Chen H. De novo inverted tandem duplication of the long arm of chromosome 2(q34→q37) . Birth Defects: Original Article Series 1982 ; 18(3B):311-20.

Schumacher RE , Rocchini AP , Wilson GN Partial trisomy 2q. Clin Genet 1983; 23:191-4.

Ho CK , Henderson KC , Bowyer FP , et al. A patient with partial duplication 2q and partial deficiency 11q. Am J Med Genet 1987; 575-9.

Ardinger HH , Patil SR , Rhead WJ Trisomy 2q and monosomy 11q in the same individual: the importance of considering the deleted segment. Clin Genet 1987; 31:381-5.

Shapiro SD , Hansen KL , Pasztor LM , et al. Deletions of the long arm of chromosome 10. Am J Med Genet 1985; 20:181-96.

McKusick VA Mendelian Inheritance in Man. 9th ed., Baltimore: Johns Hopkins University Press, 1990.