Literature DB >> 295041

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

U Hesselbjerg, U Friedrich.   

Abstract

A patient with a de novo inversion of chromosome 2 is described. Two of her three children have the same inversion.

Entities:  

Mesh：

Substances：

Year:  1979        PMID： 295041     DOI： 10.1007/bf00289463

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


  10 in total

1.  [Pericentric inversion of chromosome 2 (p11 q13) in unrelated families (author's transl)].

Authors:  C Leonard; P Hazael-Massieux; L Bocquet; L Larget-Piet; J Boué
Journal:  Humangenetik       Date:  1975-06-19

2.  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

3.  A cytogenetic survey of 11,680 newborn infants.

Authors:  P A Jacobs; M Melville; S Ratcliffe; A J Keay; J Syme
Journal:  Ann Hum Genet       Date:  1974-05       Impact factor: 1.670

4.  Chromosome studies in full-term, low-birth-weight, mentally retarded patients.

Authors:  A T Chen; F R Sergovich; J S McKim; M L Barr; D Gruber
Journal:  J Pediatr       Date:  1970-03       Impact factor: 4.406

5.  Chromosomal heteromorphisms in the assignment of loci to particular autosomes: a study of four pedigrees.

Authors:  E Wikramanayake; J H Renwick; M A Ferguson-Smith
Journal:  Ann Genet       Date:  1971-12

6.  Pierre Robin syndrome in siblings.

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

7.  Pericentric inversions inv(2)(p11q13) and inv(2)(p13q11) in 2 unrelated families.

Authors:  R B Phillips
Journal:  J Med Genet       Date:  1978-10       Impact factor: 6.318

8.  Aneusomie de recombinaison: three further examples.

Authors:  J de Grouchy; M Aussannaire; H E Brissaud; M Lamy
Journal:  Am J Hum Genet       Date:  1966-09       Impact factor: 11.025

9.  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

10.  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 in total
  4 in total

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

Authors:  I M MacDonald; D M Cox
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

Review 2.  Pericentric inversions. Problems and significance for clinical genetics.

Authors:  P Kaiser
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

3.  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

4.  Pericentric inversions in man: personal experience and review of the literature.

Authors:  A Kleczkowska; J P Fryns; H Van den Berghe
Journal:  Hum Genet       Date:  1987-04       Impact factor: 4.132
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.