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Article

The first case report of distal 16p12.1p11.2 trisomy and proximal 16p11.2 tetrasomy inherited from both parents.

Croatian medical journal - 31 Oct 2023

Morožin Pohovski Leona, Sansović Ivona, Vulin Katarina, Odak Ljubica

Abstract excerpt

Recurrent copy number variants in the chromosomal region 16p11.2 are among the most frequent genetic causes of neurodevelopmental disorders. The increasing prevalence of brain structural anomalies is also associated with 16p11.2 deletions and duplications. We report on a four-year-old boy with microcephaly, trigonocephaly, and dysmorphic features. The patient also exhibited motor delay and autism spectrum...

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Identifiers

PMID: 37927188
PMCID: PMC10668035

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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