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Article

A distinct phenotype associated with partial trisomy 10q due to proximal direct duplication 10q11 --> q223?

Genetic counseling (Geneva, Switzerland) - 1 Jan 1996

van Buggenhout G, Decock P, Fryns J P

Abstract excerpt

We describe a 15-months-old female child with proximal 10q trisomy due to direct duplication 10q11 --> q223. Reviewing the literature a further delineation of the clinical phenotype of this rare chromosomal abnormality is proposed. The main clinical features associated with 10q11-q22 duplication are: mild to moderate mental retardation, microcephaly, postnatal growth retardation, ocular malformations, heart...

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PMID: 8652089

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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A distinct phenotype associated with partial trisomy 10q due to proximal direct duplication 10q11 --> q223?PMID 8652089Read ↗

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