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Inherited 14q duplication and 21q deletion: A rare adjacent‐2 segregation in multiple family members

16 Sept 2009

Abstract excerpt

We present a family with multiple carriers of a subtle balanced translocation t(14;21)(q21.2;q21.2) and three patients with a resultant adjacent-2 malsegregation containing a +der(14)t(14;21)(q21.2;q21.2),-21 in their chromosome complement. The initial study was performed when a 2-month-old female was referred to genetics clinic for evaluation of developmental delay, growth retardation, and failure to thrive....

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PMID: 19760655
DOI: 10.1002/ajmg.a.32999

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