Literature DB >> 949865

Familial pericentric inversion of chromosome 19, inv(19) (p13q13) with a note on genetic counseling of pericentric inversion carriers.

G R Sutherland, A J Gardiner, R F Carter.   

Abstract

An inmate of a hospital for the mentally retarded was found during a cytogenetic screening programme to have karyotype 46,XY,inv(19)(p13q13)mat. Clinical, cytogenetic and family findings are presented and it is concluded that the chromosomes abnormality was probably not the cause of the patient's retardation. The problem of genetic counseling of inversion carriers is examined in some detail and estimates of risk are given.

Entities:  

Keywords:  Case Studies; Chromosome Abnormalities; Clinic Activities; Counseling; Diseases; Neonatal Diseases And Abnormalities; Organization And Administration; Program Activities; Programs; Research Methodology; Studies

Mesh：

Year:  1976        PMID： 949865     DOI： 10.1111/j.1399-0004.1976.tb00009.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  18 in total

1.  Cytogenetic survey of a hospital for the mentally retarded.

Authors:  G R Sutherland; A R Murch; A J Gardiner; R F Carter; C Wiseman
Journal:  Hum Genet       Date:  1976-12-15       Impact factor: 4.132

2.  Molecular analysis of recombination in a family with Duchenne muscular dystrophy and a large pericentric X chromosome inversion.

Authors:  V Shashi; W L Golden; P S Allinson; S H Blanton; C von Kap-Herr; T E Kelly
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

3.  Risk for recombinants in pericentric inversions of the (p11 leads to q21) region of chromosome 18.

Authors:  V Vigi; P Maraschio; G Bosi; P Guerini; M Fraccaro
Journal:  Hum Genet       Date:  1977-06-10       Impact factor: 4.132

4.  Pericentric inversion of chromosome 19 in three families.

Authors:  E D'Alessandro; C De Matteis Vaccarella; M L Lo Re; F Cappa; A D'Alfonso; S Discepoli; M R Della Penna; G Del Porto
Journal:  Hum Genet       Date:  1988-10       Impact factor: 4.132

5.  Genetic risk for recombinant 8 syndrome and the transmission rate of balanced inversion 8 in the Hispanic population of the southwestern United States.

Authors:  A C Smith; K Spuhler; T M Williams; T McConnell; E Sujansky; A Robinson
Journal:  Am J Hum Genet       Date:  1987-12       Impact factor: 11.025

6.  Familial pericentric inversion of chromosome 11 detected prenatally.

Authors:  M H Russell; P Miller; A Killam
Journal:  J Med Genet       Date:  1982-04       Impact factor: 6.318

7.  A fetus with recombinant of chromosome 8 inherited from her carrier father.

Authors:  A Fujimoto; J W Towner; S B Turkel; M G Wilson
Journal:  Hum Genet       Date:  1978-02-16       Impact factor: 4.132

8.  Duplication-deficiency of chromosome 18, resulting from recombination of a paternal pericentric invesion, with a note for genetic counselling.

Authors:  J R Teyssier; F Bajolle
Journal:  Hum Genet       Date:  1980-02       Impact factor: 4.132

Review 9.  Pericentric inversions. Problems and significance for clinical genetics.

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

10.  Pericentric inversion in human chromosome 1 and the risk for male sterility.

Authors:  A C Chandley; S McBeath; R M Speed; L Yorston; T B Hargreave
Journal:  J Med Genet       Date:  1987-06       Impact factor: 6.318
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