Literature DB >> 3857214

Forty four probands with an additional "marker" chromosome.

K E Buckton, G Spowart, M S Newton, H J Evans.   

Abstract

Information is presented which has been obtained from an exhaustive examination of 44 probands with a supernumerary marker chromosome (mar) and their families. The data include the derivation of the mar, frequency in various populations, inheritance and possible effect on fertility, congenital abnormality, and mental ability. The practical problems in assessing the risk of abnormality in a foetus discovered during prenatal diagnosis to be carrying a mar, are discussed.

Entities:  

Mesh:

Substances:

Year:  1985        PMID: 3857214     DOI: 10.1007/bf00291656

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


  47 in total

1.  [A small supernumerary metacentric chromosome: interprétation test (author's transl)].

Authors:  N Ayraud; B Noel; M Llyod; J Letourneau; J Martinon
Journal:  J Genet Hum       Date:  1976-06

2.  Two kinships with accessory bisatellited chromosomes.

Authors:  D Soudek; B D McCreary; P Laraya; F J Dill
Journal:  Ann Genet       Date:  1973-06

3.  New technique for distinguishing between human chromosomes.

Authors:  A T Sumner; H J Evans; R A Buckland
Journal:  Nat New Biol       Date:  1971-07-07

4.  Further studies on the frequency of constitutional chromosome abnormalities in patients with malignant disease.

Authors:  M L O'Riordan; A O Langlands; D G Harnden
Journal:  Eur J Cancer       Date:  1972-08       Impact factor: 9.162

5.  Cat-eye syndrome, a partial trisomy 22.

Authors:  E M Bühler; K Méhes; H Müller; G R Stalder
Journal:  Humangenetik       Date:  1972

6.  Chromosome surveys in penal institutions and approved schools.

Authors:  P A Jacobs; W H Price; S Richmond; R A Ratcliff
Journal:  J Med Genet       Date:  1971-03       Impact factor: 6.318

7.  Supernumerary chromosomes in six patients.

Authors:  M Y Yip; J Mark; M Hultén
Journal:  Clin Genet       Date:  1982-06       Impact factor: 4.438

8.  Leukocytes cultured from small inocula of whole blood and the preparation of metaphase chromosomes by treatment with hypotonic KCl.

Authors:  D A Hungerford
Journal:  Stain Technol       Date:  1965-11

9.  An extra idic(15p)(q11) chromosome in Prader-Willi syndrome.

Authors:  H Fujita; Y Sakamoto; Y Hamamoto
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

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

View more
  49 in total

1.  Bivalent 15 regularly associates with the sex vesicle in normal male meiosis.

Authors:  C Metzler-Guillemain; C Mignon; D Depetris; M R Guichaoua; M G Mattei
Journal:  Chromosome Res       Date:  1999       Impact factor: 5.239

Review 2.  Chromosome imbalance, normal phenotype, and imprinting.

Authors:  L Bortotto; E Piovan; R Furlan; H Rivera; O Zuffardi
Journal:  J Med Genet       Date:  1990-09       Impact factor: 6.318

3.  A case of an infertile male with a small supernumerary marker chromosome negative for M-FISH and containing only heterochromatin.

Authors:  Wei Wang; Yali Hu; Haiyan Zhu; Jie Li; Ruifang Zhu; Ya-Ping Wang
Journal:  J Assist Reprod Genet       Date:  2009-05-14       Impact factor: 3.412

4.  De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints.

Authors:  D Warburton
Journal:  Am J Hum Genet       Date:  1991-11       Impact factor: 11.025

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

Authors:  R Plattner; N A Heerema; S R Patil; P N Howard-Peebles; C G Palmer
Journal:  Hum Genet       Date:  1991-07       Impact factor: 4.132

6.  Isolation of anonymous DNA markers for human chromosome 22q11 from a flow-sorted library, and mapping using hybrids from patients with DiGeorge syndrome.

Authors:  A M Sharkey; L McLaren; M Carroll; J Fantes; D Green; D Wilson; P J Scambler; H J Evans
Journal:  Hum Genet       Date:  1992-04       Impact factor: 4.132

7.  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

8.  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

9.  Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay.

Authors:  F L Long; D P Duckett; L J Billam; D K Williams; J A Crolla
Journal:  J Med Genet       Date:  1998-05       Impact factor: 6.318

10.  Supernumerary chromosomes and spermatogenesis in a human male carrier.

Authors:  H Jaafar; O Gabriel-Robez; F Vignon; E Flori; Y Rumpler
Journal:  Hum Genet       Date:  1994-07       Impact factor: 4.132

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.