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Literature DB >> 2325088

Small marker chromosomes in man: origin from pericentric heterochromatin of chromosomes 1, 9, and 16.

D F Callen¹, M L Ringenbergs, J C Fowler, C J Freemantle, E A Haan.

Abstract

Three patients with different marker chromosomes were screened by in situ hybridisation using biotinylated probes to chromosome specific pericentric repeats to determine the chromosomal origin of the marker. Each marker had a different origin, with one from each of chromosomes 1, 9, and 16. This is the first time that autosomal marker chromosomes consisting of a small ring have been shown to be derived from the pericentric heterochromatin of metacentric and submetacentric chromosomes. Evidence suggests that such markers are not associated with any significant risk of phenotypic abnormalities, but additional cases need to be studied.

Entities: Disease Species

Mesh：

Substances：

Year: 1990 PMID： 2325088 PMCID： PMC1016996 DOI： 10.1136/jmg.27.3.155

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

10 in total

1. Marker chromosomes in a series of 10,000 prenatal diagnoses. Cytogenetic and follow-up studies.

Authors: E S Sachs; J O Van Hemel; J C Den Hollander; M G Jahoda
Journal: Prenat Diagn Date: 1987-02 Impact factor: 3.050

2. Genomic organization of human centromeric alpha satellite DNA: characterization of a chromosome 17 alpha satellite sequence.

Authors: K H Choo; R Brown; G Webb; I W Craig; R G Filby
Journal: DNA Date: 1987-08

3. Two subsets of human alphoid repetitive DNA show distinct preferential localization in the pericentric regions of chromosomes 13, 18, and 21.

Authors: P Devilee; T Cremer; P Slagboom; E Bakker; H P Scholl; H D Hager; A F Stevenson; C J Cornelisse; P L Pearson
Journal: Cytogenet Cell Genet Date: 1986

4. Characterization of human centromeric regions of specific chromosomes by means of alphoid DNA sequences.

Authors: E W Jabs; M G Persico
Journal: Am J Hum Genet Date: 1987-09 Impact factor: 11.025

5. Preferential derivation of abnormal human G-group-like chromosomes from chromosome 15.

Authors: R R Schreck; W R Breg; B F Erlanger; O J Miller
Journal: Hum Genet Date: 1977-04-07 Impact factor: 4.132

6. Sensitive system for visualising biotinylated DNA probes hybridised in situ: rapid sex determination of intact cells.

Authors: J Burns; V T Chan; J A Jonasson; K A Fleming; S Taylor; J O McGee
Journal: J Clin Pathol Date: 1985-10 Impact factor: 3.411

7. Chromosome-specific alpha satellite DNA: isolation and mapping of a polymorphic alphoid repeat from human chromosome 10.

Authors: P Devilee; T Kievits; J S Waye; P L Pearson; H F Willard
Journal: Genomics Date: 1988-07 Impact factor: 5.736

Review 8. Molecular arrangement and evolution of heterochromatic DNA.

Authors: D L Brutlag
Journal: Annu Rev Genet Date: 1980 Impact factor: 16.830

9. Cytogenetic and clinical studies in five cases of inv dup(15).

Authors: L Wisniewski; T Hassold; J Heffelfinger; J V Higgins
Journal: Hum Genet Date: 1979-09 Impact factor: 4.132

10. Human chromosome-specific repetitive DNA sequences: novel markers for genetic analysis.

Authors: R K Moyzis; K L Albright; M F Bartholdi; L S Cram; L L Deaven; C E Hildebrand; N E Joste; J L Longmire; J Meyne; T Schwarzacher-Robinson
Journal: Chromosoma Date: 1987 Impact factor: 4.316

10 in total

24 in total

10. Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: clinical implications.

Authors: J Leana-Cox; L Jenkins; C G Palmer; R Plattner; L Sheppard; W L Flejter; J Zackowski; F Tsien; S Schwartz
Journal: Am J Hum Genet Date: 1994-05 Impact factor: 11.025

Small marker chromosomes in man: origin from pericentric heterochromatin of chromosomes 1, 9, and 16.

1. Marker chromosomes in a series of 10,000 prenatal diagnoses. Cytogenetic and follow-up studies.

2. Genomic organization of human centromeric alpha satellite DNA: characterization of a chromosome 17 alpha satellite sequence.

3. Two subsets of human alphoid repetitive DNA show distinct preferential localization in the pericentric regions of chromosomes 13, 18, and 21.

4. Characterization of human centromeric regions of specific chromosomes by means of alphoid DNA sequences.

5. Preferential derivation of abnormal human G-group-like chromosomes from chromosome 15.

6. Sensitive system for visualising biotinylated DNA probes hybridised in situ: rapid sex determination of intact cells.

7. Chromosome-specific alpha satellite DNA: isolation and mapping of a polymorphic alphoid repeat from human chromosome 10.

Review 8. Molecular arrangement and evolution of heterochromatic DNA.

9. Cytogenetic and clinical studies in five cases of inv dup(15).

10. Human chromosome-specific repetitive DNA sequences: novel markers for genetic analysis.

1. Chromosomal origin of small ring marker chromosomes in man: characterization by molecular genetics.

2. Necropsy findings in a fetus with a 46,XY,dic t(X;21)(p11.1;p11.1).

3. Characterization of seven DA/DAPI-positive bisatellited marker chromosomes by in situ hybridization.

4. Cytogenetic studies in human sperm.

5. A rare heteromorphism of chromosome 20 and reproductive loss.

6. The isochromosome 18p syndrome: confirmation of cytogenetic diagnosis in nine cases by in situ hybridization.

7. Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis.

Review 8. Small extra ring chromosome derived from chromosome 10p: clinical report and characterisation by FISH.

9. Rapid detection of euchromatin by Alu-PRINS: use in clinical cytogenetics.

10. Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: clinical implications.