Quinacrine fluorescence and Giemsa banding in trisomy 22 View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1973-01

AUTHORS

Hope H. Punnett, Mildred L. Kistenmacher, Maria A. Toro-Sola, Gertrude Kohn

ABSTRACT

Using quinacrine fluorescence and Giemsa banding techniques we have identified an extra chromosome 22 in three non-mongoloid children with similar phenotypes and 47 chromosomes. In one of the children, the long arm of the extra 22 was shorter than usual. This 22q-chrcmcscme was observed in 4 normal family members with 46 chromosomes. In a fourth child, with similar physical findings, the extra G chromosome was shown to be neither a normal 21 nor 22. It must have arisen from a rearrangement in a parental gamete since it was not present in either parent's karyotype.No constellation of clinical findings, in association with an extra G chromosome, is sufficient evidence for the diagnosis of trisomy 22. The positive identification of the extra chromosome must be made using fluorescence and banding. More... »

PAGES

134-138

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf00306562

DOI

http://dx.doi.org/10.1007/bf00306562

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1013122890

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/24424974


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