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 contribution||Edwards' syndrome with an unusual chromosomal mosaicism|
|Title of host publication||RIV.ITAL.PEDIAT.|
|Number of pages||3|
|Publication status||Published - 1975|
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