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Literature DB >> 2523191

The role of cytologic NOR variants in the etiology of trisomy 21.

N B Spinner¹, D L Eunpu, R D Schmickel, E H Zackai, D McEldrew, G R Bunin, H McDermid, B S Emanuel.

Abstract

Silver-stained chromosomes from 29 couples with a trisomy 21 offspring and from 25 control couples were studied to determine whether there was an association of nucleolar-organizing-region variants in parents of children with trisomy 21. A reproducible scoring system for the analysis of silver-stained chromosomes was developed, and this was applied to the analysis of study participants in a blinded fashion. Seven of the 58 parents of children with trisomy 21 and seven of the 50 control parents were found to have variant NORs on silver staining. Therefore, we do not find a demonstrable risk for nondisjunction of chromosome 21 in individuals with silver-staining variants.

Entities: Chemical Species

Mesh：

Substances：
Genetic Markers

Year: 1989 PMID： 2523191 PMCID： PMC1715650

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

23 in total

1. CYTOGENETICS OF DOWN'S SYNDROME (MONGOLISM). I. DATA ON A CONSECUTIVE SERIES OF PATIENTS REFERRED FOR GENETIC COUNSELLING AND DIAGNOSIS.

Authors: J L HAMERTON; F GIANNELLI; P E POLANI
Journal: Cytogenetics Date: 1965

2. Chromosome preparations of leukocytes cultured from human peripheral blood.

Authors: P S MOORHEAD; P C NOWELL; W J MELLMAN; D M BATTIPS; D A HUNGERFORD
Journal: Exp Cell Res Date: 1960-09 Impact factor: 3.905

3. Nucleolus organizer and N-band distribution in morphologic and fluorescence variants of human chromosomes.

Authors: N Archidiacono; A de Capoa; M Ferraro; F Pelliccia; A Rocchi; M Rocchi
Journal: Hum Genet Date: 1977-07-26 Impact factor: 4.132

4. Nucleolus organizing genes on chromosome 21: recombination and nondisjunction.

Authors: R D Schmickel; I L Gonzalez; J M Erickson
Journal: Ann N Y Acad Sci Date: 1985 Impact factor: 5.691

5. Analysis of nucleolar organizing regions in parents of trisomic spontaneous abortions.

Authors: T Hassold; P A Jacobs; D Pettay
Journal: Hum Genet Date: 1987-08 Impact factor: 4.132

6. A rapid technique for producing silver-stained nucleolus organizer regions and trypsin-giemsa bands on human chromosomes.

Authors: W M Howell; D A Black
Journal: Hum Genet Date: 1978-07-12 Impact factor: 4.132

7. Short arm enlargement in acrocentric chromosomes.

Authors: V E Sands
Journal: Am J Hum Genet Date: 1969-05 Impact factor: 11.025

8. A marker chromosome number 14 with double satellite obseved in two generations: an unbalanced chromosome constitution associated with normal phenotype.

Authors: F Gigliani; A De Capoa; A Rocchi
Journal: Humangenetik Date: 1972

The role of cytologic NOR variants in the etiology of trisomy 21.

1. CYTOGENETICS OF DOWN'S SYNDROME (MONGOLISM). I. DATA ON A CONSECUTIVE SERIES OF PATIENTS REFERRED FOR GENETIC COUNSELLING AND DIAGNOSIS.

2. Chromosome preparations of leukocytes cultured from human peripheral blood.

3. Nucleolus organizer and N-band distribution in morphologic and fluorescence variants of human chromosomes.

4. Nucleolus organizing genes on chromosome 21: recombination and nondisjunction.

5. Analysis of nucleolar organizing regions in parents of trisomic spontaneous abortions.

6. A rapid technique for producing silver-stained nucleolus organizer regions and trypsin-giemsa bands on human chromosomes.

7. Short arm enlargement in acrocentric chromosomes.

8. A marker chromosome number 14 with double satellite obseved in two generations: an unbalanced chromosome constitution associated with normal phenotype.

9. "A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum.

10. Evidence for genetic control of nondisjunction in man.

1. dNORs and meiotic nondisjunction.

2. Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation.

3. Molecular characterization of the marker chromosome associated with cat eye syndrome.

4. Minute supernumerary ring chromosome 22 associated with cat eye syndrome: further delineation of the critical region.