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Article

The phenotype of patients with 4q-syndrome.

Genetic counseling (Geneva, Switzerland) - 1 Jan 2003

Strehle E M, Bantock H M

Abstract excerpt

The 4q-syndrome comprises all microscopically visible deletions of the long arm of chromosome 4. Here we review the phenotypical characteristics of 101 literature cases and delineate this evolving deletion syndrome further. The most common anomalies observed in these patients were craniofacial (99%), digital (88%), skeletal (54%) and cardiac (50%). Nearly all of the surviving probands were delayed in their...

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PMID: 12872814

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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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