The fetal pathology of the XXXXY-syndrome

H. Rehder, M. Fraccaro, C. Cuoco, G. Gimelli, E. Porro

Research output: Contribution to journalArticlepeer-review


A second case of fetal XXXXY-syndrome detected by prenatal chromosome analysis is presented. The pathological findings include a facial aspect featuring fetal Down's syndrome, hypogenitalism and hypogonadism with excessive reduction of germ cells and also skeletal abnormalities that may be interpreted as early changes, preceding phalangeal shortening V and radioulnar synostosis.

Original languageEnglish
Pages (from-to)213-218
Number of pages6
JournalClinical Genetics
Issue number3
Publication statusPublished - 1986

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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