Literature DB >> 9872671

A rare chromosome 5 heterochromatic variant derived from insertion of 9qh satellite 3 sequences.

L Doneda1, P Gandolfi, G Nocera, L Larizza.   

Abstract

A rare chromosome 5 heterochromatic variant not linked to any clinical sign was identified in a three-generation family. After performing conventional cytogenetics characterization, fluorescence in situ hybridization of D9Z1 indicated that the unusually large qh region of chromosome 5 originated from 9qh, whereas the centromere of the variant chromosome was 5-specific as demonstrated by primed in situ DNA labelling. FISH of probes targeting satellite 3 and beta-satellite sequences of 9qh showed that only satellite 3 sequences were present in the variant 5qh region.

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Year:  1998        PMID： 9872671     DOI： 10.1023/a:1009237608514

Source DB:  PubMed          Journal:  Chromosome Res        ISSN： 0967-3849            Impact factor:   5.239


  15 in total

1.  Evolution of repeated DNA sequences by unequal crossover.

Authors:  G P Smith
Journal:  Science       Date:  1976-02-13       Impact factor: 47.728

2.  Breakpoints in alpha, beta, and satellite III DNA sequences of chromosome 9 result in a variety of pericentric inversions.

Authors:  K H Ramesh; R S Verma
Journal:  J Med Genet       Date:  1996-05       Impact factor: 6.318

3.  Human satellite III DNA: genomic location and sequence homogeneity of the TaqI-deficient polymorphic sequences.

Authors:  J C Fowler; L A Burgoyne; E G Baker; M L Ringenbergs; D F Callen
Journal:  Chromosoma       Date:  1989-10       Impact factor: 4.316

4.  A familial polymorphic variant of chromosome 5.

Authors:  M Seabright; N M Gregson; M Johnson
Journal:  J Med Genet       Date:  1980-12       Impact factor: 6.318

5.  Marker chromosomes in parents of spontaneous abortuses.

Authors:  S Holbek; U Friedrich; J G Lauritsen; J Therkelsen
Journal:  Humangenetik       Date:  1974

6.  The effect of structural aberrations of the chromosomes on reproductive fitness in man. II. Results.

Authors:  P A Jacobs; A Frackiewicz; P Law; C J Hilditch; N E Morton
Journal:  Clin Genet       Date:  1975-09       Impact factor: 4.438

7.  Different phenotypes in two cases of an apparently identical familial (Yq;13p) translocation.

Authors:  L Doneda; I Magnani; M G Tibiletti; L Dalprà; L Larizza
Journal:  Hum Reprod       Date:  1992-04       Impact factor: 6.918

8.  Centromeric alpha satellite DNA amplification and translocation in an unusually large chromosome 14p+ variant.

Authors:  S Dale; E Earle; L Voullaire; J Rogers; K H Choo
Journal:  Hum Genet       Date:  1989-05       Impact factor: 4.132

9.  Human beta satellite DNA: genomic organization and sequence definition of a class of highly repetitive tandem DNA.

Authors:  J S Waye; H F Willard
Journal:  Proc Natl Acad Sci U S A       Date:  1989-08       Impact factor: 11.205

10.  Construction of a panel of chromosome-specific oligonucleotide probes (PRINS-primers) useful for the identification of individual human chromosomes in situ.

Authors:  J Koch; J Hindkjaer; S Kølvraa; L Bolund
Journal:  Cytogenet Cell Genet       Date:  1995
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  1 in total

1.  A new multicolor fluorescence in situ hybridization probe set directed against human heterochromatin: HCM-FISH.

Authors:  Maria Bucksch; Monika Ziegler; Nadezda Kosayakova; Milene V Mulatinho; Milene V Mulhatino; Juan C Llerena; Susanne Morlot; Wolfgang Fischer; Anna D Polityko; Anna I Kulpanovich; Michael B Petersen; Britta Belitz; Vladimir Trifonov; Anja Weise; Thomas Liehr; Ahmed B Hamid
Journal:  J Histochem Cytochem       Date:  2012-04-17       Impact factor: 2.479
  1 in total

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