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Article

Partial deletion of 18p and partial duplication of 18q caused by a paternal pericentric inversion.

Clinical genetics - 1 Dec 1996

Israëls T, Hoovers J, Turpijn H M, Wijburg F A, Hennekam R C

Abstract excerpt

Here we report on a boy with both a partial deletion of chromosome 18p and a partial duplication of chromosome 18q, caused by a paternal pericentric inversion (46,XY,rec(18),dup q,inv(18)(p11.2q21.1)pat). The findings in the patient are compared to those in the literature. The symptoms in the described patient can be explained for the major part by the 18p- and 18q+ syndromes separately. A specific 18p-/18q+...

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Source

Identifiers

PMID: 9147887
DOI: 10.1111/j.1399-0004.1996.tb02726.x

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Partial deletion of 18p and partial duplication of 18q caused by a paternal pericentric inversion.PMID 9147887Read ↗

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