Inherited tandem duplication dup(X) (q131‐q212) in a male proband
- 28 February 1985
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 27 (3), 276-281
- https://doi.org/10.1111/j.1399-0004.1985.tb00220.x
Abstract
A tandem duplication dup(X) (q131-q212) was diagnosed neonatally because of the peculiar appearance. Family investigation demonstrated that the duplication has segregated through phenotypically normal female carriers for at least 3 generations. Inactivation studies showed that the aberrant X was preferentially late replicating. The difficulties related to prenatal diagnosis of minor X chormosome aberrations in males are discussed.Keywords
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