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Am J Med Genet. 1985 Sep;22(1):29-33.

A de novo translocation, 14q21q, with a microchromosome-14p21p.

Abstract

A familial translocation, t(14;21)(14p21p;14q21q), in a mother and her child is described. The translocation was ascertained through the birth of a Down syndrome baby with the chromosome constitution 47,XX,-14, +der 14, +der 21,t(14;21)(q11;p12) mat. A 1:3 segregation in the maternal meiosis is suggested for the evolution of the unbalanced chromosome state. The main translocated chromosome 14q21q mimics the product of a Robertsonian translocation, while the 14p21p chromosome has the morphology of a satellited microchromosome. The cytogenetic nature of this translocation is discussed.

PMID:
2931981
DOI:
10.1002/ajmg.1320220103
[Indexed for MEDLINE]
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