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Article

Mild phenotype in two siblings with distal monosomy 12p13.31-->pter.

Clinical genetics - 1 May 2000

Glass I A, Trenholme A, Mildenhall L, Bailey R J, Cotter P D

Abstract excerpt

We report two sibs with trisomy for the region 2p25.1--> pter and monosomy for the region 12p13.31--> pter, due to adjacent-1 segregation of a maternal balanced reciprocal translocation, 46,XX,t(2;12)(p25.1;p13.31). These sibs presented with a mild phenotype, but nevertheless showed features of each of the contributing aneusomies. Monosomy 12p has previously been considered to have a variable and indistinct...

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Identifiers

PMID: 10852377
DOI: 10.1034/j.1399-0004.2000.570513.x

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