[Pätau syndrome without trisomy karyotype? Danger of restricted thinking in syndrome diagnosis].
By means of a case-report the problems of an uncritical usage of the terminus "syndrom" are pointed out. The report concerns with a newborn child clinically showing nearly all morphological characteristics of the "Pätau-Syndrom" without having a chromosomal aberration.
Universitäts-Frauenklinik Marburg.
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Duda
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D000649:Amniocentesis; D002882:Chromosomes, Human, Pair 13; D003951:Diagnostic Errors; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014314:Trisomy
PATAU-SYNDROM ohne Trisomie-Karyotyp? Die Gefahr des "Schubladendenkens" in der Syndromdiagnostik.