Literature DB >> 1601422

Trisomy 8p: unusual origin detected by fluorescence in situ hybridization.

C M Moore1, K Barnum, C I Kaye, K S Kagan-Hallett, J C Liang.   

Abstract

Chromosomal analysis of a neonate with brain and heart abnormalities revealed trisomy for 8p. The mother's karyotype showed 47 chromosomes with one chromosome 8 being represented as two separate chromosomes, an acrocentric 8p and a telocentric 8q. G-banding and silver staining revealed a satellite and nucleolus organizing region (NOR) on the 8p. Centromeric-specific probes to the centromeres of chromosomes 8, 15, 13/21, 22 and the acrocentric chromosomes revealed that only the 8q centromere was of chromosome-8 origin, while the 8p centromere was of chromosome-14 origin.

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Year:  1992        PMID: 1601422     DOI: 10.1007/bf00220547

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  43 in total

1.  Prenatal diagnosis of a partial 8p trisomy.

Authors:  A Pezzolo; M P Bicocchi; C Zampatti; C Cuoco; G Gimelli
Journal:  Prenat Diagn       Date:  1990-08       Impact factor: 3.050

Review 2.  Trisomy 8p by malsegregation of a t(5;8)(p15;p11)mat in a case of XY pure gonadal dysgenesis.

Authors:  L Memo; E Lenzini; C Baccichetti
Journal:  Ann Genet       Date:  1988

3.  Cytogenetic analysis by in situ hybridization with fluorescently labeled nucleic acid probes.

Authors:  D Pinkel; J W Gray; B Trask; G van den Engh; J Fuscoe; H van Dekken
Journal:  Cold Spring Harb Symp Quant Biol       Date:  1986

4.  Trisomy 8p due to the 3:1 segregation of the balanced translocation t(8;15)mat.

Authors:  G I Lazjuk; I W Lurie; Y I Usova; D B Gurevich; M K Nedzved
Journal:  Hum Genet       Date:  1979-02-15       Impact factor: 4.132

5.  A case of patient with 46, XY, Ep+mat.

Authors:  S Sonta; H Oishi; K Tsuda
Journal:  Jinrui Idengaku Zasshi       Date:  1974-06

6.  A human family suggesting evidence for centric fission and stability of a telocentric chromosome.

Authors:  A K Sinha; S Pathak; J J Nora
Journal:  Hum Hered       Date:  1972       Impact factor: 0.444

7.  Controlled silver-staining of nucleolus organizer regions with a protective colloidal developer: a 1-step method.

Authors:  W M Howell; D A Black
Journal:  Experientia       Date:  1980-08-15

8.  Clinical, enzyme, and cytogenetic investigations in three new cases of trisomy 8p.

Authors:  J F Mattei; M G Mattei; J P Ardissone; J Coignet; F Giraud
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

9.  Report of a trisomy 8p infant with carrier father.

Authors:  S J Funderburk; C T Barrett; I Klisak
Journal:  Ann Genet       Date:  1978-12

10.  Complete and partial trisomy of different segments of chromosome 8: case reports and review.

Authors:  R M Fineman; R C Ablow; W R Breg; S D Wing; J S Rose; S L Rothman; J Warpinski
Journal:  Clin Genet       Date:  1979-12       Impact factor: 4.438

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  2 in total

Review 1.  Two cases of partial trisomy 8p and partial monosomy 21q in a family with a reciprocal translocation (8;21)(p21.1;q22.3).

Authors:  A S Plomp; J J Engelen; J C Albrechts; C E de Die-Smulders; A J Hamers
Journal:  J Med Genet       Date:  1998-07       Impact factor: 6.318

2.  Trisomy 8 syndrome owing to isodicentric 8p chromosomes: regional assignment of a presumptive gene involved in corpus callosum development.

Authors:  M C Digilio; A Giannotti; G Floridia; F Uccellatore; R Mingarelli; C Danesino; B Dallapiccola; O Zuffardi
Journal:  J Med Genet       Date:  1994-03       Impact factor: 6.318

  2 in total

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