Literature DB >> 6974528

An infant with trisomy 6q21 leads to 6qter.

R L Neu, J U Gallien, N Steinberg-Warren, R J Wynn, R M Bannerman.   

Abstract

A female who died shortly after birth with multiple congenital anomalies corresponding to the clinical picture of partial 6q trisomy is described and the autopsy findings are presented. The patient had an unbalanced chromosome complement with a 6q21 leads to 6qter duplication. Her mother is a balanced 46,XX,t(6;10)(q21;q26) carrier.

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Year:  1981        PMID: 6974528

Source DB:  PubMed          Journal:  Ann Genet        ISSN: 0003-3995


  2 in total

Review 1.  Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome.

Authors:  E K Pivnick; M B Qumsiyeh; A T Tharapel; J B Summitt; R S Wilroy
Journal:  J Med Genet       Date:  1990-08       Impact factor: 6.318

2.  Partial trisomy 6q: case report with necropsy findings.

Authors:  C J Franchino; D Beneck; M A Greco; S R Wolman
Journal:  J Med Genet       Date:  1987-05       Impact factor: 6.318

  2 in total

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