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Article

Partial duplication of the long arm of chromosome 15: Confirmation of a causative role in craniosynostosis and definition of a 15q25-qter trisomy syndrome

22 Dec 1999

Abstract excerpt

A syndrome of mental retardation and multiple congenital anomalies, including craniosynostosis and overgrowth, was observed in two related individuals from a large kindred. Both of them carried a 15q25.1-qter trisomy associated with a subtle 13qter monosomy resulting from unbalanced segregation of a familial t(13;15)(q34;q25.1) translocation. Reportedly, a further individual in this kindred has the same...

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Identifiers

PMID: 10594876
DOI: 10.1002/(sici)1096-8628(19991222)87:5<391::aid-ajmg4>3.0.co;2-o

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Source receipt: pubmed, retrieved 7 Sept 2026.

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