Literature DB >> 1132877

Irregular phenotypic expression of ring chromosomes.

R Zdansky, M Andrle, E Bühler, T Tsuchimoto, W R Mayr, A Rett.   

Abstract

2 patients with 13- and C9-rings are reported. On reviewing the phenotypical features of the published ring carriers and comparing them with our results we do not find any characteristic similarities. This can be explained by cytogenetical and biological findings. We are therefore inclined to reject the existence of clear-cut ring chromosome syndromes.

Entities:  

Mesh：

Year:  1975        PMID： 1132877     DOI： 10.1007/bf00281453

Source DB:  PubMed          Journal:  Humangenetik        ISSN： 0018-7348


  14 in total

1.  Ring chromosome D (13) associated with multiple congenital malformations.

Authors:  E Niebuhr; J Ottosen
Journal:  Ann Genet       Date:  1973-09

2.  Reexamination of a family with a t(13q14q) and a ring D(13) child.

Authors:  E Niebuhr
Journal:  Ann Genet       Date:  1973-09

3.  Staining of some specific regions of human chromosomes, particularly the secondary constriction of No. 9.

Authors:  M Bobrow; K Madan; P L Pearson
Journal:  Nat New Biol       Date:  1972-07-26

4.  [Ring chromosome 8 (46,XY, 8 r) in a boy with debility (author's transl)].

Authors:  R A Pfeiffer; H G Lenard
Journal:  Klin Padiatr       Date:  1973-05       Impact factor: 1.349

5.  Developmental abnormalities associated with a ring chromosome 6.

Authors:  C M Moore; R H Heller; G H Thomas
Journal:  J Med Genet       Date:  1973-09       Impact factor: 6.318

6.  [Hereditary mosaicism: normal-trisomy D, chromosome fragility and new type of mosaicism with D ringformation in descendents].

Authors:  R Zdansky; A Rett; A Piperger
Journal:  Fortschr Med       Date:  1972-07-06

7.  A group-C ring chromosome in a mentally deficient male.

Authors:  A J Therkelsen; B Moller; K Henningsen
Journal:  J Med Genet       Date:  1971-06       Impact factor: 6.318

8.  Comparative behavior of ring chromosomes.

Authors:  M L Kistenmacher; H H Punnett
Journal:  Am J Hum Genet       Date:  1970-05       Impact factor: 11.025

9.  Ring chromosome 7 with variable phenotypic expression.

Authors:  E H Zackai; W R Breg
Journal:  Cytogenet Cell Genet       Date:  1973

10.  Compendium on shortness of stature.

Authors:  D W Smith
Journal:  J Pediatr       Date:  1967-03       Impact factor: 4.406
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  7 in total

1.  Parental origin of a ring 13 chromosome in a female with multiple anomalies.

Authors:  R E Magenis; H E Wyandt; K M Overton; J Macfarlane
Journal:  Hum Genet       Date:  1976-07-27       Impact factor: 4.132

2.  Mental retardation and congenital malformations associated with a ring chromosome 9.

Authors:  S Nakajima; M Yanagisawa; S Kamoshita; Y Nakagome
Journal:  Hum Genet       Date:  1976-06-29       Impact factor: 4.132

3.  Ring chromosome 9. 46,XY,r(9) in a male with ambiguous external genitalia.

Authors:  C Metaxotou; A Kalpini-Mavrou
Journal:  Hum Genet       Date:  1977-07-26       Impact factor: 4.132

4.  Ring 11 chromosome (46,xx,r11(p15q25)).

Authors:  M Valente; H Muller; R S Sparkes
Journal:  Hum Genet       Date:  1977-05-10       Impact factor: 4.132

5.  Ring chromosome 8 in a boy with multiple congenital abnormalities and mental retardation.

Authors:  A J Hamers; C van Kempen
Journal:  J Med Genet       Date:  1977-12       Impact factor: 6.318

6.  A ring chromosome 9 in an infant with malformations.

Authors:  T Inouye; H Matsuda; K Shimura; M Hamazaki; I Kikuta; K Iinuma; Y Nakagome
Journal:  Hum Genet       Date:  1979-09       Impact factor: 4.132

7.  Moderate mental retardation and nonspecific dysmorphic syndrome associated with ring chromosome 9.

Authors:  J P Fryns; A Lambrechts; H Jansseune; H Van den Berghe
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132
  7 in total

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