Literature DB >> 517581

Ring chromosome 6 in a child with minimal abnormalities.

A Carnevale, B Blanco, J Castillo, V del Castillo, D Dominguez.   

Abstract

We describe a boy with a ring chromosome 6 and short stature, mild micrognathia, and bilateral transitional/simian creases. Five other patients with a ring 6 have been reported. The clinical and cytogenetic observations of all six patients are compared and discussed.

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Year:  1979        PMID： 517581     DOI： 10.1002/ajmg.1320040310

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


  4 in total

1.  The ring chromosome 13 syndrome.

Authors:  N J Martin; P J Harvey; J H Pearn
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

2.  Interstitial deletion of chromosome 6q: precise definition of the breakpoints by microdissection, DNA amplification, and reverse painting.

Authors:  N Rubtsov; G Senger; H Kuzcera; A Neumann; C Kelbova; K Junker; V Beensen; U Claussen
Journal:  Hum Genet       Date:  1996-06       Impact factor: 4.132

3.  Mosaic ring chromosome 6 in an infant with significant patent ductus arteriosus and multiple congenital anomalies.

Authors:  Seung Jae Lee; Dong Kyun Han; Hwa Jin Cho; Young Kuk Cho; Jae Sook Ma
Journal:  J Korean Med Sci       Date:  2012-07-25       Impact factor: 2.153

Review 4.  A child with intellectual disability and dysmorphism due to complex ring chromosome 6: identification of molecular mechanism with review of literature.

Authors:  Frenny Sheth; Thomas Liehr; Viraj Shah; Hillary Shah; Stuti Tewari; Dhaval Solanki; Sunil Trivedi; Jayesh Sheth
Journal:  Ital J Pediatr       Date:  2018-10-11       Impact factor: 2.638
  4 in total

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