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Article

Scoliosis and vertebral anomalies: additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement.

American journal of medical genetics. Part A - 1 May 2014

Al-Kateb Hussam, Khanna Geetika, Filges Isabel, Hauser Natalie, Grange Dorothy K, Shen Joseph, Smyser Christopher D, Kulkarni Shashikant, Shinawi Marwan

Abstract excerpt

The typical chromosome 16p11.2 rearrangements are estimated to occur at a frequency of approximately 0.6% of all samples tested clinically and have been identified as a major cause of autism spectrum disorders, developmental delay, behavioral abnormalities, and seizures. Careful examination of patients with these rearrangements revealed association with abnormal head size, obesity, dysmorphism, and congenital...

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Identifiers

PMID: 24458548
DOI: 10.1002/ajmg.a.36401

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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