Literature DB >> 9096755

Interstitial deletion of 6q21-q23 associated with split hand.

M Tsukahara1, J Yoneda, R Azuma, K Nakashima, N Kito, K Ouchi, Y Kanehara.   

Abstract

We report on a 7-month-old boy with interstitial deletion of 6q21-q23 and split-hand defect. He died at 7 months. This is the fifth patient with distal limb anomaly associated with a rearrangement of 6q21 region, and supports previous suggestions that there may be candidate gene(s) for distal limb development in the 6q21 region.

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Mesh：

Year:  1997        PMID： 9096755     DOI： 10.1002/(sici)1096-8628(19970331)69:3<268::aid-ajmg10>3.0.co;2-p

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


  4 in total

1.  Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype.

Authors:  V S Vervoort; D Viljoen; R Smart; G Suthers; B R DuPont; A Abbott; C E Schwartz
Journal:  J Med Genet       Date:  2002-12       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.  Confirmation of 6q21-6q22.1 deletion in acro-cardio-facial syndrome and further delineation of this contiguous gene deletion syndrome.

Authors:  Cindy Hudson; Corbin Schwanke; John P Johnson; Abdallah F Elias; Sandy Phillips; Tammy Schwalbe; Mary Tunby; Dongbin Xu
Journal:  Am J Med Genet A       Date:  2014-04-08       Impact factor: 2.802

4.  A de novo interstitial 6q deletion in a boy with a split hand malformation.

Authors:  Jorge Duran-Gonzalez; Melva Gutierrez-Angulo; Diana Garcia-Cruz; Maria de la Luz Ayala; Miguel Padilla; Ingrid P Davalos
Journal:  J Appl Genet       Date:  2007       Impact factor: 3.240
  4 in total

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