Literature DB >> 6450156

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

A Ieshima, N Ogasawara, Y Yamamoto, Y 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.

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Year:  1980        PMID： 6450156     DOI： 10.1007/bf00329128

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  15 in total

1.  Dosage effect of SOD-A gene in 21-trisomic cells.

Authors:  N Crosti; A Serra; A Rigo; P Viglino
Journal:  Hum Genet       Date:  1976-02-29       Impact factor: 4.132

2.  [Ring chromosome 21. A new case].

Authors:  L Larget-Piet; J Berthelot; J Guittet; A Hamon; A Larget-Piet; R Rouchy
Journal:  Pediatrie       Date:  1976-09

3.  21 ring chromosome in a girl with stigmata of Down's and G deletion I syndromes.

Authors:  A Serra; D P Singh-Kahlon
Journal:  Hum Genet       Date:  1976-07-07       Impact factor: 4.132

4.  A case of a girl with a 21 ring chromosome.

Authors:  M Kucerová; Z Polívková
Journal:  Hum Hered       Date:  1974       Impact factor: 0.444

5.  Identification of 21r and 22r chromosomes by quinacrine fluorescence.

Authors:  B F Crandall; F Weber; H M Muller; J K Burwell
Journal:  Clin Genet       Date:  1972       Impact factor: 4.438

6.  The G deletion syndromes.

Authors:  R J Warren; D L Rimoin
Journal:  J Pediatr       Date:  1970-10       Impact factor: 4.406

7.  Four new cases of ring 21 and 22 including familial transmission of ring 21.

Authors:  C G Palmer; M E Hodes; T Reed; J Kojetin
Journal:  J Med Genet       Date:  1977-02       Impact factor: 6.318

8.  An improved technique for selective silver staining of nucleolar organizer regions in human chromosomes.

Authors:  S E Bloom; C Goodpasture
Journal:  Hum Genet       Date:  1976-10-28       Impact factor: 4.132

9.  A t(21q21q) ring chromosome.

Authors:  E Orye; M Craen
Journal:  Hum Hered       Date:  1974       Impact factor: 0.444

10.  Dosage effects for superoxide dismutase-1 in nucleated cells aneuploid for chromosome 21.

Authors:  W W Feaster; L W Kwok; C J Epstein
Journal:  Am J Hum Genet       Date:  1977-11       Impact factor: 11.025
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  7 in total

1.  Molecular mechanism in the formation of a human ring chromosome 21.

Authors:  C Wong; H H Kazazian; G Stetten; W C Earnshaw; M L Van Keuren; S E Antonarakis
Journal:  Proc Natl Acad Sci U S A       Date:  1989-03       Impact factor: 11.205

Review 2.  Ring chromosomes: from formation to clinical potential.

Authors:  Inna E Pristyazhnyuk; Aleksei G Menzorov
Journal:  Protoplasma       Date:  2017-09-12       Impact factor: 3.356

3.  Prenatal detection of an unstable ring 21 chromosome.

Authors:  G Stetten; B Sroka; V L Corson; C D Boehm
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

4.  Down's syndrome with a recombinant tandem duplication of chromosome 21 derived from a maternal ring.

Authors:  R T Howell; A McDermott; A Gardner; V Dickinson
Journal:  J Med Genet       Date:  1984-08       Impact factor: 6.318

5.  Concurrence of ring 21 and trisomy 21 in children of normal parents.

Authors:  Yong-Gon Cho; Tae-Won Park; Chang-Seop Lee; Sam-Im Choi
Journal:  Yonsei Med J       Date:  2005-04-30       Impact factor: 2.759

6.  Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21.

Authors:  M J McGinniss; H H Kazazian; G Stetten; M B Petersen; H Boman; E Engel; F Greenberg; J M Hertz; A Johnson; Z Laca
Journal:  Am J Hum Genet       Date:  1992-01       Impact factor: 11.025

7.  Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies.

Authors:  Lars T van der Veken; Marianne Mj Dieleman; Hannie Douben; Judith C van de Brug; Raoul van de Graaf; A Jeannette M Hoogeboom; Pino J Poddighe; Annelies de Klein
Journal:  Mol Cytogenet       Date:  2010-07-09       Impact factor: 2.009
  7 in total

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