Literature DB >> 2680173

Inv(8)(p23q22) and recombinant derivative in a Sicilian family.

T Mattina1, L Conti, G Milone, S Marino, G Sorge.   

Abstract

A family with inv8(p23q22), in which one girl with a derivative chromosome 8 showed the characteristic phenotype, is reported. Our case differs from the 32 known families with inv8(p23q22), being the first of apparently non-Hispanic descent. The anomaly may, however, have its origins in the Spanish domination of Sicily.

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Mesh：

Year:  1989        PMID： 2680173     DOI： 10.1111/j.1399-0004.1989.tb03199.x

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


  4 in total

1.  Review of radiologic and clinical findings in the recombinant 8 syndrome.

Authors:  S L Williamson; C L Clericuzio
Journal:  Pediatr Radiol       Date:  1991

2.  Familial double pericentric inversion of chromosome 5 with some features of cri-du-chat syndrome.

Authors:  S A Goodart; M G Butler; J Overhauser
Journal:  Hum Genet       Date:  1996-06       Impact factor: 4.132

3.  A dysmorphic child with a pericentric inversion of chromosome 8.

Authors:  Venkateshwari Ananthapur; Srilekha Avvari; Sujatha Madireddi; Pratibha Nallari; Jyothy Akka
Journal:  Case Rep Pediatr       Date:  2012-02-08

4.  Familial pericentric inversion inv(8)(p23q11).

Authors:  H Boyd; J Kaste; E Hovi; U M Ritanen-Mohammed; H Kääriäinen; A de la Chapelle; A E Lehesjoki
Journal:  J Med Genet       Date:  1994-03       Impact factor: 6.318
  4 in total

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