Literature DB >> 3931476

Mosaic trisomy 9 syndrome with unusual phenotype.

C P Kaminker, L Daín, M A Lamas, J M Sánchez.   

Abstract

We report on a newborn infant with mosaic trisomy 9. The patient shared only a few anomalies with the previously reported cases of this chromosome abnormality but had a severe craniofacial malformation not yet reported in this syndrome.

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Year:  1985        PMID： 3931476     DOI： 10.1002/ajmg.1320220204

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


  6 in total

Review 1.  [The rare malformation of nasal aplasia].

Authors:  C-H Cho; M Shakibaei; H-J Merker; M Klein
Journal:  Mund Kiefer Gesichtschir       Date:  2006-03

2.  Gastrointestinal abnormalities in the syndrome of mosaic trisomy 9.

Authors:  I Levy; Y Levy; Z Mammon; M Nitzan; R Steinherz
Journal:  J Med Genet       Date:  1989-04       Impact factor: 6.318

Review 3.  Gene-rich chromosome regions and autosomal trisomy. A case of chromosome 3 trisomy mosaicism.

Authors:  E M Kuhn; G E Sarto; B J Bates; E Therman
Journal:  Hum Genet       Date:  1987-11       Impact factor: 4.132

Review 4.  Trisomy 9 mosaicism in two girls with multiple congenital malformations and mental retardation.

Authors:  C Stoll; D Chognot; A Halb; J C Luckel
Journal:  J Med Genet       Date:  1993-05       Impact factor: 6.318

Review 5.  Unrevealed mosaicism in the next-generation sequencing era.

Authors:  Marzena Gajecka
Journal:  Mol Genet Genomics       Date:  2015-10-19       Impact factor: 3.291

6.  Gas1 is a modifier for holoprosencephaly and genetically interacts with sonic hedgehog.

Authors:  Maisa Seppala; Michael J Depew; David C Martinelli; Chen-Ming Fan; Paul T Sharpe; Martyn T Cobourne
Journal:  J Clin Invest       Date:  2007-05-24       Impact factor: 14.808
  6 in total

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