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5.
Ann Genet ; 23(4): 249-50, 1980.
Article in English | MEDLINE | ID: mdl-6971607

ABSTRACT

A case of 2q trisomy in a malformed female infant resulting from unbalanced segregation of maternal origin is reported. The mother and one of the proposita's sibs where found to be carriers of balanced translocation 2;17. Two other members in the kindred had died with multiple malformations. The patient's karyotype was 46,XX,-17, + der (17)t(2;17)(q32;q25)mat.


Subject(s)
Chromosome Aberrations/genetics , Chromosomes, Human, 1-3 , Translocation, Genetic , Trisomy , Chromosome Disorders , Female , Humans , Infant, Newborn
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