Literature DB >> 3978842

Trisomy 10 mosaicism in a newborn boy; delineation of the syndrome.

H F de France, F A Beemer, R C Senders, S C Schaminée-Main.   

Abstract

The fifth case of trisomy 10 mosaicism is presented. Only in cultured fibroblasts this mosaicism was found, while peripheral lymphocytes revealed a normal karyotype. In comparison with the literature, trisomy 10 mosaicism syndrome is further delineated compromising of failure to thrive, high forehead, hypertelorism, mongoloid eye slant, blepharophimosis, dysplastic, large ears, retrognathia, long slender trunk, marked plantar and palmar furrows, cardiopathy and early death.

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Year:  1985        PMID: 3978842     DOI: 10.1111/j.1399-0004.1985.tb00190.x

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


  2 in total

1.  Partial distal 10q trisomy due to de novo amplification: A new case without furrows or ridges in fingers and palms.

Authors:  Aliakbar Rahbarimanesh; Pupak Derakhshandeh-Peykar; Amirhassan Barkhordari; Reza Ebrahimzadeh-Vesal; Soja Shamizadeh Kalkhoran
Journal:  Rep Biochem Mol Biol       Date:  2013-04

Review 2.  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

  2 in total

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