Literature DB >> 3980020

Inversion of chromosome 2 (p11p13): frequency and implications for genetic counselling.

I M MacDonald, D M Cox.   

Abstract

Two cases of a pericentric inversion of chromosome 2 were found amongst 3619 blood specimens referred for karyotypic analysis. An additional three cases were identified within 1820 pregnancies presenting for genetic amniocentesis because of late maternal age. The implications for management in these cases are discussed.

Entities:  

Mesh：

Year:  1985        PMID： 3980020     DOI： 10.1007/bf00293042

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


  16 in total

1.  Microdensitometric identification of the pericentric inversion of chromosome No.2 and of duplication of the short arm of chromosome No.7 in a reexamined case.

Authors:  I Subrt; J Kozák; O Hníková
Journal:  Hum Hered       Date:  1973-04       Impact factor: 0.444

2.  Pierre Robin syndrome in siblings.

Authors:  R P Singh; N T Jaco; V Vigna
Journal:  Am J Dis Child       Date:  1970-12

3.  Experiences with unexpected structural chromosome aberrations in prenatal diagnosis in a Danish series.

Authors:  L O Vejerslev; U Friedrich
Journal:  Prenat Diagn       Date:  1984 May-Jun       Impact factor: 3.050

4.  Two pericentric inversions, inv(2)(p11q13) and inv(5)(p13q13), in a patient referred for psychiatric problems.

Authors:  D R Romain; C J Chapman; L Columbano-Green; R H Smythe; O Gebbie
Journal:  J Med Genet       Date:  1982-04       Impact factor: 6.318

5.  Fragile sites and chromosome breakpoints in constitutional rearrangements II. Spontaneous abortions, stillbirths and newborns.

Authors:  F Hecht; B K Hecht
Journal:  Clin Genet       Date:  1984-09       Impact factor: 4.438

6.  Familial pericentric inversion of chromosome 2.

Authors:  M S Mattevi; C E Pinheiro; B Erdtmann; R Z Flores; F M Salzano
Journal:  J Genet Hum       Date:  1981-06

7.  Study on segregation and risk for abnormal offspring in carriers of pericentric inversion of the (p11 leads to q13) segment of chromosome 2.

Authors:  C Baccichetti; E Lenzini; A Peserico; R Tenconi
Journal:  Clin Genet       Date:  1980-12       Impact factor: 4.438

8.  Abnormal childhood phenotypes associated with the same balanced chromosome rearrangements as in the parents.

Authors:  S Ayme; M G Mattei; J F Mattei; F Giraud
Journal:  Hum Genet       Date:  1979-04-17       Impact factor: 4.132

9.  Inherited pericentric inversion of chromosome no. 2 with Robertsonian translocation (13q 14q) resulting in trisomy for chromosome 13q.

Authors:  R S Verma; H Dosik; I B Wexler
Journal:  J Genet Hum       Date:  1977-12

10.  Pericentric inversion in chromosome no. 2 as a de novo mutation.

Authors:  U Hesselbjerg; U Friedrich
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132
View more
  5 in total

1.  The variant inv(2)(p11.2q13) is a genuinely recurrent rearrangement but displays some breakpoint heterogeneity.

Authors:  Ina Fickelscher; Thomas Liehr; Kathryn Watts; Victoria Bryant; John C K Barber; Simone Heidemann; Reiner Siebert; Jens Michael Hertz; Zeynep Tumer; N Simon Thomas
Journal:  Am J Hum Genet       Date:  2007-08-28       Impact factor: 11.025

2.  Abnormal chromosome complement resulting from a familial inversion of chromosome 2.

Authors:  S Richter; B Lockwood; D Lockwood; J Allanson
Journal:  J Med Genet       Date:  1989-11       Impact factor: 6.318

3.  Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis.

Authors:  S Saunier; J Calado; F Benessy; F Silbermann; R Heilig; J Weissenbach; C Antignac
Journal:  Am J Hum Genet       Date:  2000-03       Impact factor: 11.025

4.  Inversion variants in the human genome: role in disease and genome architecture.

Authors:  Lars Feuk
Journal:  Genome Med       Date:  2010-02-12       Impact factor: 11.117

5.  The significance of pericentric inversions of chromosome 2.

Authors:  M Djalali; P Steinbach; J Bullerdiek; M Holmes-Siedle; M R Verschraegen-Spae; A Smith
Journal:  Hum Genet       Date:  1986-01       Impact factor: 4.132
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.