Forensic DNA analysis of a foetal histological section and chromosome sample from chorionic villi (CV) in Down syndrome

H. Pamjav, B. Egyed, S. Füredi, J. Woller, Zs Pádár, E. Susa, B. Baraczka

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According to the opinion of a plaintiff (Mrs. B) and a co-plaintiff (Mrs. A), two samples had been exchanged during cytogenetic investigation of foetal chorionic villi (CV), because the child of Mrs. A was born with Down syndrome in spite of the negative CV result (46, XY). The CV investigation of Mrs. B had given a positive result (47, XY, +21), so the pregnancy was terminated, but histological sections of her abortus showed no pathological changes. DNA profiles were successfully obtained from the participants and both of the slides. Two complicating factors were observed during the investigation. Between mother (Mrs. A) and the Down syndrome child, a one-step germ line mutation was found together with a three-allele D3S1358 pattern in the same child's profile. The genetic investigation and its statistical interpretation strongly support the hypothesis that the putative exchange of samples did not occur.

Original languageEnglish
Pages (from-to)485-487
Number of pages3
JournalInternational Congress Series
Issue numberC
Publication statusPublished - Apr 1 2004



  • Down syndrome
  • Germline mutation
  • Paternity testing
  • STR
  • Three-banded pattern

ASJC Scopus subject areas

  • Medicine(all)

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