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Article

Prenatal diagnosis of two different unbalanced forms of an inherited (Y;12) translocation

16 Nov 2009

Abstract excerpt

The identification of an unexpected structural chromosome rearrangement at prenatal diagnosis can be problematic and raises unique genetic counseling issues. We describe two consecutive prenatal cases within a family with an inherited unbalanced (Y;12) translocation and discuss the genotype-phenotype correlation. The first fetus presented with 12qter monosomy and pseudoautosomal region 2 trisomy, while the second...

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PMID: 19921651
DOI: 10.1002/ajmg.a.33105

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