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Clinical outcomes of adjacent 1 segregation in a familial translocation t(8;18)(p21.3;p11.23).
  1. A E Cockwell,
  2. R S James,
  3. I E Moore,
  4. E Hatchwell,
  5. J A Crolla
  1. Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wiltshire, UK.

    Abstract

    We report a reciprocal translocation t(8;18)(p21.3;p11.23) in which both unbalanced products of adjacent 1 segregation were observed within a family. The proband was originally referred because of short stature and a webbed neck, but further investigations showed that she had mental retardation and a congenital heart defect, and had inherited an unbalanced form of the maternal translocation, 46, XX,der(8)t(8;18)mat. The proband's sister spontaneously aborted an 11 week fetus with multiple major system malformations, which was found to have a 46,XY, der(18)t(8;18)mat karyotype. The phenotypic findings of the affected subjects are discussed.

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