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Article

Inverted duplication with terminal deletion of 5p and no cat-like cry.

American journal of medical genetics. Part A - 1 May 2008

Wang Jia-Chi, Coe Bradley P, Lomax Brenda, MacLeod Patrick M, Parslow Malcolm I, Schein Jacqueline E, Lam Wan L, Eydoux Patrice

Abstract excerpt

We report on a 6-year-old boy referred for cytogenetics study. A few non-specific features were observed in the newborn: hypotonia, failure to thrive, seizures, pre-auricular skin tags. Cat-like cry was not identified. No remarkable facial dysmorphism, gastrointestinal, respiratory or cardiac abnormalities were identified. At age 4 years, speech and motor skill delays were apparent. Karyotyping and FISH analysis...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18266247
DOI: 10.1002/ajmg.a.32246

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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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