Literature DB >> 604496

Supernumerary small ring chromosome.

S Kaffe, H J Kim, L Y Hsu, C B Brill, K Hirschhorn.   

Abstract

A supernumerary small ring chromosome was found in 30% of cultured peripheral leucocytes and 50% of skin fibroblasts in a 6-year-old boy with mild mental retardation and midline cleft palate. The extra chromosome appeared to carry a densely staining region on Giemsa banding. The banding patterns of the remaining 46 chromosomes were normal. C banding indicated that the ring chromosome contained mainly centromeric constitutive heterochromatin. Chromosome analysis of both parents showed normal karyotypes by both conventional and banding techniques; thus the origin of the ring chromosome could not be determined.

Entities:  

Mesh:

Year:  1977        PMID: 604496      PMCID: PMC1013643          DOI: 10.1136/jmg.14.6.447

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  16 in total

1.  MULTIPLE ANOMALIES ASSOCIATED WITH AN EXTRA SMALL AUTOSOME.

Authors:  A FROLAND; G HOLST; E TERSLEV
Journal:  Cytogenetics       Date:  1963

2.  An aberrant small acrocentric chromosome.

Authors:  J R ELLIS; R MARSHALL; L S PENROSE
Journal:  Ann Hum Genet       Date:  1962-07       Impact factor: 1.670

3.  The syndrome of the metacentric microchromosome.

Authors:  G Abbo; H Zellweger
Journal:  Helv Paediatr Acta       Date:  1970-01

4.  Trisomy of the long arm of human chromosome 1.

Authors:  T H Norwood; H Hoehn
Journal:  Humangenetik       Date:  1974

5.  Supernumerary small ring chromosome.

Authors:  J J Hoo; C Forster; I Kindermann; B Zabel; S Hansen
Journal:  Humangenetik       Date:  1974

6.  C bands in human metaphase chromosomes treated by barium hydroxide.

Authors:  F Salamanca; S Armendares
Journal:  Ann Genet       Date:  1974-06

7.  Partial trisomy 11 in a child resulting from a complex maternal rearrangement of chromosomes 11, 12 and 13.

Authors:  O Sanchez; J J Yunis; J I Escobar
Journal:  Humangenetik       Date:  1974-04-24

8.  Trisomy of the short arm of chromosome 17.

Authors:  E Latta; J J Hoo
Journal:  Humangenetik       Date:  1974

9.  Quinacrine fluorescence for identifying metaphase chromosomes, with special reference to photomicrography.

Authors:  W R Breg
Journal:  Stain Technol       Date:  1972-03

10.  Precise identification of various chromosomal abnormalities.

Authors:  K Hirschhorn; M Lucas; I Wallace
Journal:  Ann Hum Genet       Date:  1973-04       Impact factor: 1.670

View more
  1 in total

1.  Agenesis of the corpus callosum with mosaicism 46,XY/47,XY, extra ring chromosome.

Authors:  G Zamboni; F Bernardi; C Danesino; U M del Majno; G Beghini; B Dalla Bernardina
Journal:  J Med Genet       Date:  1980-02       Impact factor: 6.318

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.