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Journals and Conferences
N. BLAU 1*, A. NIEDERWIESER1t, H. Ch. CURTIUS 1 , L. KIERAT\ W. LEIMBACHER 1, A. MATASOVICl, F. BINKERT2 , H. LEHMANN 3 , D. LEUPOLD3 , O. GUARDAMAGNA4 , A. PONZONE4 , H. SCHMIDTs , T. COSKUN 6 , 1. OZALp6 , R. GIUGLIANI 7 , G. BIASUCCI8 and M. GIOVANNINI 8 IDivision of Clinical Chemistry, Department of Pediatrics, 2Institute of Genetics, University of… (More)
A mentally retarded boy with discrete physical findings, Hirschsprung disease (HD) and a microdeletion of 13q,del(13)(q32.3q33.2) is described. Band 13q33.1 was consistently missing in all cells. There have been, to date, 4 published cases of deletions involving the long arm of chromosome 13 associated with HD: the interstitial deletion reported here is… (More)
False diagnoses in prenatal chromosomal analysis are rare; but the causes are numerous. They can be specific for amniocentesis, chorionic villus samples or independent of the tissue. The sources of mistake and their frequencies are discussed in detail.