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Article

Partial trisomy 1q (1q32-->1qter) in adulthood: further delineation of the phenotype.

Annales de genetique - 1 Jan 1998

Van Buggenhout G, De Coen L, Fryns J P

Abstract excerpt

Trisomy 1q is a rare condition frequently reported in association with other chromosomal abnormalities. An adult female patient had partial trisomy of the long arm of chromosome 1 (1q32.3-->qter) and partial monosomy of the short arm of chromosome 8 (8p23-->pter) of de novo origin. Clinical features in adulthood included mental retardation, short stature, long narrow face, brachycephaly, synophrys, small downward...

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PMID: 9706337

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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