A case of r(21) with stigmata of atypical Down syndrome.

Human genetics ·Vol. 55 ·No. 1 ·1980-00-00 ·Pages 65-9

Ieshima A, Ogasawara N, Yamamoto Y, Kuroki Y

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.

MeSH Terms

Chromosome Aberrations Chromosomes, Human, 21-22 and Y/ultrastructure Dermatoglyphics Down Syndrome/genetics Erythrocytes/enzymology Female Humans Infant Karyotyping Superoxide Dismutase/blood,genetics

Chemicals

Superoxide Dismutase

Authors & Affiliations

4 authors, click to expand affiliations / ORCID

Ieshima A

Ogasawara N

Yamamoto Y

Kuroki Y

References (15)

15 references, click to expand

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Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00329128

Published

1980-00-00

Pages

65-9

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/BF00329128 View journal details

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A case of r(21) with stigmata of atypical Down syndrome.

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