Literature DB >> 6499269

Interstitial deletion of the long arm of chromosome 6 [del(6) (q16q22)]: case report and review of the literature.

M F Schwartz, S Kaffe, S Wallace, R J Desnick.   

Abstract

Partial monosomy of 6q resulting from an interstitial deletion of bands q16----q22 was found in a 12-year-old boy manifesting mental retardation, seizure disorder, and dysmorphic features. The correlation of phenotypic expression and specific long arm deletions of chromosome No. 6 is discussed.

Entities:  

Mesh：

Year:  1984        PMID： 6499269     DOI： 10.1111/j.1399-0004.1984.tb01106.x

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


  4 in total

1.  Interstitial deletion (6) (q11----q15) in an infant with congenital abnormalities.

Authors:  H R Slater; A Robb; L A Forsyth; D A Hamilton; M C Clark; C A Galloway
Journal:  J Med Genet       Date:  1988-03       Impact factor: 6.318

2.  Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.

Authors:  Jill A Rosenfeld; Dina Amrom; Eva Andermann; Frederick Andermann; Martin Veilleux; Cynthia Curry; Jamie Fisher; Stephen Deputy; Arthur S Aylsworth; Cynthia M Powell; Kandamurugu Manickam; Bryce Heese; Melissa Maisenbacher; Cathy Stevens; Jay W Ellison; Sheila Upton; John Moeschler; Wilfredo Torres-Martinez; Abby Stevens; Robert Marion; Elaine Maria Pereira; Melanie Babcock; Bernice Morrow; Trilochan Sahoo; Allen N Lamb; Blake C Ballif; Alex R Paciorkowski; Lisa G Shaffer
Journal:  Neurogenetics       Date:  2012-01-05       Impact factor: 2.660

3.  Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

Authors:  Laïla El Khattabi; Fabien Guimiot; Eva Pipiras; Joris Andrieux; Clarisse Baumann; Sonia Bouquillon; Anne-Lise Delezoide; Bruno Delobel; Florence Demurger; Hélène Dessuant; Séverine Drunat; Christelle Dubourg; Céline Dupont; Laurence Faivre; Muriel Holder-Espinasse; Sylvie Jaillard; Hubert Journel; Stanislas Lyonnet; Valérie Malan; Alice Masurel; Nathalie Marle; Chantal Missirian; Alexandre Moerman; Anne Moncla; Sylvie Odent; Orazio Palumbo; Pietro Palumbo; Aimé Ravel; Serge Romana; Anne-Claude Tabet; Mylène Valduga; Marie Vermelle; Massimo Carella; Jean-Michel Dupont; Alain Verloes; Brigitte Benzacken; Andrée Delahaye
Journal:  Eur J Hum Genet       Date:  2014-11-05       Impact factor: 4.246

4.  Rare presentation of 6q16.3 microdeletion syndrome with severe upper limb reduction defects and duodenal atresia.

Authors:  Megan L Donahue; Luis O Rohena
Journal:  Clin Case Rep       Date:  2017-04-26
  4 in total

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