[Complete triploidy in a liveborn premature (author's transl)].
Authors describe the clinical, pathological and cytogenetic data of a polymalformed premature with a complete a triploidy 69,XXY). This rare condition (30 cases in the literature) may be suspected in a premature with broad posterior fontanella, eye and ear anomalies, syndactily between IV and III fingers/toes, intersexual status and mielomeningocele. Frequently the placenta presents a molar or micromolar degeneration.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations / Q000473:pathology; D025063:Chromosome Disorders; D003581:Cytodiagnosis; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007235:Infant, Premature, Diseases / Q000175:diagnosis / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D011123:Polyploidy; D011247:Pregnancy; D012729:Sex Chromosome Aberrations / Q000175:diagnosis*
Triploidia completa en un recién nacido vivo.