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Article

Variability in a family with an insertion involving 5p.

American journal of medical genetics - 17 Sept 1999

Marinescu R C, Mamunes P, Kline A D, Schmidt J, Rojas K, Overhauser J

Abstract excerpt

Cri-du-chat syndrome is due to a partial deletion of the short arm of chromosome 5 and comprises a catlike cry, minor facial anomalies, growth delays, and psychomotor retardation. We identified a family with an insertion involving chromosome areas 5p and 16q. Four relatives are balanced carriers and have a normal phenotype, 5 have inherited the insertion in an unbalanced form with 2 resulting in partial trisomy...

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Source

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PMID: 10482876

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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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