Duplication 12q mosaicism in two unrelated patients with a similar syndrome
- 1 January 1980
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 7 (2) , 123-129
- https://doi.org/10.1002/ajmg.1320070206
Abstract
Two unrelated children with a similar syndrome were found to have mosaicism for a cell line containing one chromosome 12 with an additional faintly G‐banding staining region that apparently represents a duplication of the distal portion of the long arm. The homolog and the other chromosomes are normal, as are the parental chromosomes. The remarkable phenotypic similarity of the 2 patients and their resemblance to 2 previously reported patients with duplication of the same chromosome region suggests that duplication 12q24 results in a clinically identifiable malformation syndrome.Keywords
This publication has 3 references indexed in Scilit:
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- Quantitative analysis of high-resolution trypsin-Giemsa bands on human prometaphase chromosomesHuman Genetics, 1978
- Partial trisomy 12 in a mentally retarded boy and translocation (12;21) in his motherJournal of Medical Genetics, 1974