Literature DB >> 16769261

24 Mb deletion of 6q22.1-->q23.2 in an infant with pulmonary atresia, ventricular septal defect, microcephaly, developmental delay and facial dysmorphism.

C-P Chen1, T-H Wang, S-P Lin, S-R Chern, M-R Chen, C-C Lee, Y-J Chen, W Wang.   

Abstract

24 Mb deletion of 6q22.1-->q23.2 in an infant with pulmonary atresia, ventricular septal defect, microcephaly, developmental delay and facial dysmorphism.

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Year:  2006        PMID: 16769261     DOI: 10.1016/j.ejmg.2006.04.002

Source DB:  PubMed          Journal:  Eur J Med Genet        ISSN: 1769-7212            Impact factor:   2.708


  2 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.  6q21-22 deletion syndrome with interrupted aortic arch.

Authors:  Ayumi Matsumoto; Yasuyuki Nozaki; Takaomi Minami; Eriko F Jimbo; Hirohiko Shiraishi; Takanori Yamagata
Journal:  Hum Genome Var       Date:  2015-06-11
  2 in total

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