Literature DB >> 6156115

A ring 14 chromosome with deleted short arm.

A P Amarose, E Dorus, P R Huttenlocher, S Csaszar.   

Abstract

We report a 46,XX,r(14) karyotype in a female infant having craniofacial dysmorphology, a seizure disorder, and developmental retardation.

Entities:  

Mesh：

Year:  1980        PMID： 6156115     DOI： 10.1007/BF00278962

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


  9 in total

1.  Cytological evidence for switches in polarity of chromosomal DNA.

Authors:  S Wolff; D L Lindsley; W J Peacock
Journal:  Proc Natl Acad Sci U S A       Date:  1976-03       Impact factor: 11.205

2.  Ring 13 or ring 14: distinction by banding analysis of a culture derived from tissue frozen for 10 years.

Authors:  R S Sparkes; H Muller; H Kihara; R E Carrel
Journal:  Hum Genet       Date:  1977-10-14       Impact factor: 4.132

3.  Extended evaluation of previously reported twins with a ring 14 chromosome.

Authors:  R S Sparkes; I Klisak; M C Sparkes
Journal:  Ann Genet       Date:  1977-12

4.  [Ring chromosome 14 in monozygotic twins].

Authors:  P Jalbert; B Sele; H Jalbert; L Sirand; H Pison; J Couturier
Journal:  Ann Genet       Date:  1977-03

5.  A simple technique for demonstrating centromeric heterochromatin.

Authors:  A T Sumner
Journal:  Exp Cell Res       Date:  1972-11       Impact factor: 3.905

6.  A rapid banding technique for human chromosomes.

Authors:  M Seabright
Journal:  Lancet       Date:  1971-10-30       Impact factor: 79.321

7.  [The Dr syndrome. Study of a further case (46, XX, 14r)].

Authors:  S Gilgenkrantz; C Cabrol; C Lausecker; M E Hartleyb; B Bohe
Journal:  Ann Genet       Date:  1971-03

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.  Absent thumbs with a ring D2 chromosome: a new deletion syndrome.

Authors:  R S Sparkes; R E Carrel; S W Wright
Journal:  Am J Hum Genet       Date:  1967-09       Impact factor: 11.025
  9 in total
  3 in total

1.  Ring chromosome 14: a distinct clinical entity.

Authors:  R Schmidt; L Eviatar; H M Nitowsky; M Wong; S Miranda
Journal:  J Med Genet       Date:  1981-08       Impact factor: 6.318

2.  Retinal/macular pigmentation in conjunction with ring 14 chromosome.

Authors:  P J Howard; D Clark; J Dearlove
Journal:  Hum Genet       Date:  1988-10       Impact factor: 4.132

Review 3.  Distribution of break points in human structural rearrangements.

Authors:  Y Nakagome; T Matsubara; H Fujita
Journal:  Am J Hum Genet       Date:  1983-03       Impact factor: 11.025
  3 in total

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