Literature DB >> 6948963

Absence of constitutive heterochromatin in a partially identified supernumerary marker chromosome.

G S Pai, G H Thomas, P J Benke.   

Abstract

A retarded child with multiple malformations was found to have a karyotype 47,XY,de1(11)(11 pter leads to q21:), +mar(11 qter leads to q21::?). The mitotically stable centric marker had no demonstrable C heterochromatin. Phenotype-karyotype correlation and the role of C heterchromatin in phenotypic effects are discussed.

Entities:  

Mesh：

Substances：

Year:  1981        PMID： 6948963      PMCID： PMC1048765          DOI： 10.1136/jmg.18.5.392

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


  6 in total

1.  High resolution of human chromosomes.

Authors:  J J Yunis
Journal:  Science       Date:  1976-03-26       Impact factor: 47.728

2.  [Partial monosomy 11q. A new case].

Authors:  J L Bresson; A Noir
Journal:  Ann Genet       Date:  1977-03

3.  Trigonocephaly and the 11q- syndrome.

Authors:  S B Cassidy; R M Heller; A W Kilroy; W McKelvey; E Engel
Journal:  Ann Genet       Date:  1977-03

4.  A simple technique for demonstrating centromeric heterochromatin.

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

5.  A case with 46, XX, del (11) (q21).

Authors:  J Faust; W Vogel; B Löning
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438

6.  Complete deficiency of constitutive heterochromatin on a human chromosome 9.

Authors:  C H Buys; J M Ypma; W L Gouw
Journal:  Hum Genet       Date:  1979-06-19       Impact factor: 4.132
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.