Literature DB >> 6967281

De novo paracentric inversion in a microcephalic boy: 46,XY, inv(14)(q13q24).

J Jaeken, J P Fryns, L Standaert, P De Cock, H Van den Berghe.   

Abstract

A 3 1/2 year-old severely microcephalic male is reported with a paracentric inversion in the long arm of a chromosome 14. This is the second report of nonfamilial paracentric inversion in man.

Entities:  

Mesh：

Year:  1980        PMID： 6967281

Source DB:  PubMed          Journal:  Ann Genet        ISSN： 0003-3995


  8 in total

Review 1.  Homozygous paracentric inversion 12 in a mentally retarded boy: a case report and review of the literature.

Authors:  H A Price; S H Roberts; K M Laurence
Journal:  Hum Genet       Date:  1987-02       Impact factor: 4.132

2.  New data on clonal anomalies of chromosome 14 in ataxia telangiectasia: tct(14;14) and inv(14).

Authors:  A Aurias; M F Croquette; J P Nuyts; C Griscelli; B Dutrillaux
Journal:  Hum Genet       Date:  1986-01       Impact factor: 4.132

3.  A case of perineal hypospadias with paracentric inversion of chromosome 14.

Authors:  A K Leung; J J Hoo
Journal:  Eur J Pediatr       Date:  1986-02       Impact factor: 3.183

4.  Reproductive outcomes of paracentric inversion carriers: report of a liveborn dicentric recombinant and literature review.

Authors:  E H Mules; J Stamberg
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

5.  A familial paracentric inversion: a short review of the current status.

Authors:  P A Venter; B Dawson; J L Du Toit; E L Smith; N Kritzinger; A S Landman; A S Cronje; J Op't Hof
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

6.  Cytogenetic recombinants from a female carrying a paracentric inversion of the short arm of chromosome number 5.

Authors:  E Valcárcel; J Benítez; P Martínez; J A Rey; A Sánchez Cascos
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

7.  Paracentric inversions in man.

Authors:  J P Fryns; A Kleczkowska; H Van den Berghe
Journal:  Hum Genet       Date:  1986-07       Impact factor: 4.132

Review 8.  Paracentric inversions: a review.

Authors:  K Madan
Journal:  Hum Genet       Date:  1995-11       Impact factor: 4.132
  8 in total

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