Literature DB >> 2014196

Autopsy findings in interstitial deletion 6q.

Y Wakahama1, M Nakayama, M Fujimura.   

Abstract

Autopsy findings from a child with interstitial deletion 6q [46,XX,del(6)(q13q21)] are reported. There was cervical scoliosis, an endocardial cushion defect, right ventricular hypertrophy, subependymal cysts, multicystic kidneys (Potter type IIB), and lung hypoplasia.

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Year:  1991        PMID： 2014196     DOI： 10.3109/15513819109064745

Source DB:  PubMed          Journal:  Pediatr Pathol        ISSN： 0277-0938


  3 in total

1.  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

2.  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

3.  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
  3 in total

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