Literature DB >> 6185681

A homozygote for pericentric inversion of chromosome 4.

N J Carpenter, B Say, N D Barber.   

Abstract

A child with developmental and language delay was found to be homozygous for a pericentric inversion of chromosome 4 (inv(4) (p15 X 2q12)). Her normal mother and aunt are inversion heterozygotes. It is suggested that the phenotypic abnormalities may have resulted from damage at chromosomal breakpoints or from a position effect which is expressed only in homozygous form.

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Year:  1982        PMID： 6185681      PMCID： PMC1048967          DOI： 10.1136/jmg.19.6.469

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  20 in total

1.  [Pericentric inversion of chromosome 4 : inv (4) (p13, q35) and trisomy of the short branch of chromosome 4 due to recombination aneusomy].

Authors:  B Dallapiccola; L Capra; G Preto; M Covic; B Dutrillaux
Journal:  Ann Genet       Date:  1974-06

2.  [Trisomy 4p due to recombination aneusomy of an inversion 4 (p 14, q 35)].

Authors:  M O Rethoré; B Dutrillaux; J C Job; J Lejeune
Journal:  Ann Genet       Date:  1974-06

3.  [Heterozygosity and homozygosity for a pericentric inversion of human chromosone 3].

Authors:  A Betz; C Turleau; J de Grouchy
Journal:  Ann Genet       Date:  1974-06

4.  A pericentric inversion of a chromosome 4 with a t(4q+10p-) and a familial t(DqDq) in a mentally retarded girl.

Authors:  S W Soukup; W Yarema; M Robinow
Journal:  Humangenetik       Date:  1974

5.  Structural variation in chromosome No 9.

Authors:  K Madan; M Bobrow
Journal:  Ann Genet       Date:  1974-06

6.  Inherited pericentric inversion of chromosome 5: a family with history of neonatal death and a case of the "cri du chat" syndrome.

Authors:  M J Faed; V J Marrian; J Robertson; E B Robson; P J Cook
Journal:  Cytogenetics       Date:  1972

7.  Pericentric inversions of chromosome 9 in two families.

Authors:  J Wahrman; J Atidia; R Goitein; T Cohen
Journal:  Cytogenetics       Date:  1972

8.  Inherited pericentric inversion of chromosome no. 4.

Authors:  M G Wilson; J W Towner; G S Coffin; I Forsman
Journal:  Am J Hum Genet       Date:  1970-11       Impact factor: 11.025

9.  Pericentric inversions of human chromosomes 9 and 10.

Authors:  A de la Chapelle; J Schröder; K Stenstrand; J Fellman; R Herva; M Saarni; I Anttolainen; I Tallila; L Tervilä; L Husa; G Tallqvist; E B Robson; P J Cook; R Sanger
Journal:  Am J Hum Genet       Date:  1974-11       Impact factor: 11.025

10.  Dominant piebald trait in a retarded child with a reciprocal translocation and small intercalary deletion.

Authors:  S J Funderburk; B F Crandall
Journal:  Am J Hum Genet       Date:  1974-11       Impact factor: 11.025
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  5 in total

1.  Uniparental disomy and gene localization.

Authors:  A A Schinzel
Journal:  Am J Hum Genet       Date:  1991-02       Impact factor: 11.025

Review 2.  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

3.  Maternal uniparental disomy for chromosome 14.

Authors:  I K Temple; A Cockwell; T Hassold; D Pettay; P Jacobs
Journal:  J Med Genet       Date:  1991-08       Impact factor: 6.318

4.  Two pericentric inversions inv(7)(p15;q32) and inv(9)(p11;q13) in a male with absence of vas deferens.

Authors:  P Petit; J P Fryns
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

5.  Cytogenetic contribution to uniparental disomy (UPD).

Authors:  Thomas Liehr
Journal:  Mol Cytogenet       Date:  2010-03-29       Impact factor: 2.009
  5 in total

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