Literature DB >> 7294066

Meiotic consequences of pericentric inversions of chromosome 13.

S L Wenger, M W Steele.   

Abstract

A case is presented demonstrating meiotic consequences of inheritance of a pericentric inversion, inv(13)(p13q21), and suggesting, together with other similar reports reviewed, that certain manifestations (highly arched palate, long philtrum, polydactyly, microphthalmia, and capillary hemangiomata) result from duplication of the distal 13q while others (cleft lip/palate, scalp defects, congenital heart disease) result from duplication of the proximal 13q.

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Year:  1981        PMID： 7294066     DOI： 10.1002/ajmg.1320090403

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  6 in total

1.  Phenotype-karyotype correlation in patients trisomic for various segments of chromosome 13.

Authors:  S A Tharapel; R C Lewandowski; A T Tharapel; R S Wilroy
Journal:  J Med Genet       Date:  1986-08       Impact factor: 6.318

2.  Elucidation of the centromere involvement in an inversion (13) by fluorescent in situ hybridisation.

Authors:  P L Gordon; J D Dalton; P R Martens; A T Tharapel; R S Wilroy
Journal:  J Med Genet       Date:  1993-05       Impact factor: 6.318

3.  Familial pericentric inversion (13) detected by antenatal diagnosis.

Authors:  E L Maltby
Journal:  J Med Genet       Date:  1984-04       Impact factor: 6.318

4.  Familial translocation leading to partial trisomy 13: report of three cases.

Authors:  S A Tharapel; R C Lewandowski; M K Kukolich
Journal:  Indian J Pediatr       Date:  1984 Jul-Aug       Impact factor: 1.967

5.  The phenotype in partial 13q trisomies, apropos of a familial (13;15)(q22;q26) translocation.

Authors:  F Rivas; H Rivera; M L Plascencia; B Ibarra; J M Cantú
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

Review 6.  Pericentric inversions. Problems and significance for clinical genetics.

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

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