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Literature DB >> 1433228

A non-isotopic in situ hybridisation study of the chromosomal origin of 15 supernumerary marker chromosomes in man.

Abstract

Fifteen patients presenting with mosaic or non-mosaic karyotypes containing a distamycin-DAPI negative de novo or familial supernumerary marker chromosome were studied with non-isotopic in situ hybridisation using a library of alphoid centromere specific and satellite II/III probes. The in situ hybridisation studies showed that seven markers were derived from satellited autosomes (three chromosome 13/21, two chromosome 14, two chromosome 22), six from non-satellited autosomes (two chromosome 4, one chromosome 12, one chromosome 16, two chromosome 19), and one from the Y chromosome. One non-mosaic marker was negative for all the alphoid and satellite II/III probes used.

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Year: 1992 PMID： 1433228 PMCID： PMC1016126 DOI： 10.1136/jmg.29.10.699

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

23 in total

Review 1. The role of chromosome abnormalities in reproductive failure.

Authors: P A Jacobs
Journal: Reprod Nutr Dev Date: 1990

2. Frequent occurrence of translocations of the short arm of chromosome 15 to other D-group chromosomes.

Authors: D F Smeets; G F Merkx; A H Hopman
Journal: Hum Genet Date: 1991-05 Impact factor: 4.132

3. High population incidence of the 15p marker D15Z1 mapping to the short arm of one homologue 14.

Authors: K Stergianou; C P Gould; J J Waters; M Hultén
Journal: Hum Genet Date: 1992-01 Impact factor: 4.132

Review 4. Potential genetic functions of tandem repeated DNA sequence blocks in the human genome are based on a highly conserved "chromatin folding code".

Authors: P Vogt
Journal: Hum Genet Date: 1990-03 Impact factor: 4.132

5. An investigation of ring and dicentric chromosomes found in three Turner's syndrome patients using DNA analysis and in situ hybridisation with X and Y chromosome specific probes.

Authors: C Cooper; J A Crolla; C Laister; D I Johnston; P Cooke
Journal: J Med Genet Date: 1991-01 Impact factor: 6.318

6. Maternal uniparental disomy for chromosome 14.

Authors: I K Temple; A Cockwell; T Hassold; D Pettay; P Jacobs
Journal: J Med Genet Date: 1991-08 Impact factor: 6.318

7. Transmission of a balanced homologous t(22q;22q) translocation from mother to normal daughter.

Authors: C G Palmer; S Schwartz; M E Hodes
Journal: Clin Genet Date: 1980-06 Impact factor: 4.438

8. Incontinentia pigmenti and X-autosome translocations. Non-isotopic in situ hybridization with an X-centromere-specific probe (pSV2X5) reveals a possible X-centromeric breakpoint in one of five published cases.

Authors: J A Crolla; S Gilgenkrantz; J de Grouchy; T Kajii; M Bobrow
Journal: Hum Genet Date: 1989-02 Impact factor: 4.132

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

Authors: D F Callen; M L Ringenbergs; J C Fowler; C J Freemantle; E A Haan
Journal: J Med Genet Date: 1990-03 Impact factor: 6.318

10. The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture.

Authors: A Schinzel; W Schmid; M Fraccaro; L Tiepolo; O Zuffardi; J M Opitz; J Lindsten; P Zetterqvist; H Enell; C Baccichetti; R Tenconi; R A Pagon
Journal: Hum Genet Date: 1981 Impact factor: 4.132

16 in total

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

Authors: J A Crolla; J F Harvey; F L Sitch; N R Dennis
Journal: Hum Genet Date: 1995-02 Impact factor: 4.132

2. Mosaic supernumerary ring chromosome 19 identified by comparative genomic hybridisation.

Authors: S R Ghaffari; E Boyd; J M Connor; A M Jones; J L Tolmie
Journal: J Med Genet Date: 1998-10 Impact factor: 6.318

Review 3. Centromere DNA dynamics: latent centromeres and neocentromere formation.

Authors: K H Choo
Journal: Am J Hum Genet Date: 1997-12 Impact factor: 11.025

4. Analysis of a whole arm translocation between chromosomes 18 and 20 using fluorescence in situ hybridization: detection of a break in the centromeric alpha-satellite sequences.

Authors: Z Tümer; A Berg; M Mikkelsen
Journal: Hum Genet Date: 1995-03 Impact factor: 4.132

5. Characterization of supernumerary ring marker chromosomes by fluorescence in situ hybridization (FISH).

Authors: E Blennow; G Annerén; T H Bui; E Berggren; E Asadi; M Nordenskjöld
Journal: Am J Hum Genet Date: 1993-08 Impact factor: 11.025

6. Delineation of marker chromosomes by reverse chromosome painting using only a small number of DOP-PCR amplified microdissected chromosomes.

Authors: R Viersbach; G Schwanitz; M M Nöthen
Journal: Hum Genet Date: 1994-06 Impact factor: 4.132

7. A functional marker centromere with no detectable alpha-satellite, satellite III, or CENP-B protein: activation of a latent centromere?

Authors: L E Voullaire; H R Slater; V Petrovic; K H Choo
Journal: Am J Hum Genet Date: 1993-06 Impact factor: 11.025