SINDROME DI EDWARDS CAUSATA DA UN INSOLITO MOSAICO CROMOSOMICO

Translated title of the contribution: Edwards' syndrome with an unusual chromosomal mosaicism

B. Dallapiccola, L. Osti, L. Capra, C. Vullo

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

In a newborn baby presenting Edwards' syndrome an unusual chromosome rearrangement involving chromosome n. 18 was detected. By means of standard Giemsa and R bands two cell lines were demonstrated, which are trisomic and tetrasomic respectively for the long arm of chromosome 18. The major line, with a modal number of 46, consists of an abnormal n. 18 resulting from the translocation of an 18 q segment onto the short arm of another chromosome 18. The minor line, with a modal number of 47, shows the same complement as cells with 46 chromosomes, plus a small acrocentric chromosome, which was interpreted as an 18p-. The present observation gives further support to the view that Edwards' syndrome is primarily due to the presence in triplicate of genic determinants on the long arm.

Translated title of the contributionEdwards' syndrome with an unusual chromosomal mosaicism
Original languageItalian
Title of host publicationRIV.ITAL.PEDIAT.
Pages53-55
Number of pages3
Volume1
Edition1
Publication statusPublished - 1975

ASJC Scopus subject areas

  • Medicine(all)

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    Dallapiccola, B., Osti, L., Capra, L., & Vullo, C. (1975). SINDROME DI EDWARDS CAUSATA DA UN INSOLITO MOSAICO CROMOSOMICO. In RIV.ITAL.PEDIAT. (1 ed., Vol. 1, pp. 53-55)