Literature DB >> 3760836

Trisomy 6qter resulting from a familial (6;10) (q23;q26) translocation.

M A Enriquez-Guerra, H Rivera, M Moller, H Castillo-Sanchez, J M Cantu.   

Abstract

An infant deceased at 2 months of age was found to have a 46,XY,-10, +der(10),t (6;10) (q23;q26) mat karyotype. Since the clinical findings were similar to those of the trisomy 6qter syndrome, the present observation agrees with the assignment of the 6q23----qter segment as the pathogenetic determiner of this entity.

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Year:  1986        PMID: 3760836

Source DB:  PubMed          Journal:  J Genet Hum        ISSN: 0021-7743


  1 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

  1 in total

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