A case of r(21) with stigmata of atypical Down syndrome View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1980-07

AUTHORS

Atsushi Ieshima, Nobuaki Ogasawara, Yoshifumi Yamamoto, Yoshikazu Kuroki

ABSTRACT

A case of r(21) with stigmata of atypical Down syndrome is presented. Karyotype of the proposita was determined as 45,XX,-21/46,XX,-21,+r(21)/47,XX,-21,+r(21),+(21). Most ring chromosomes showed double-sized ring chromosomes, which were trisomic for 21p11-21q22.3 and monosomic for 21q22.3-qter. SOD-1 activity revealed only slight elevation. The mechanism of ring formation is discussed.

PAGES

65-69

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf00329128

DOI

http://dx.doi.org/10.1007/bf00329128

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1038965053

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/6450156


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