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Article

Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion.

American journal of medical genetics. Part A - 1 Jul 2012

Guion-Almeida Maria Leine, Richieri-Costa Antonio, Jehee Fernanda Sarquis, Passos-Bueno Maria Rita Santos, Zechi-Ceide Roseli Maria

Abstract excerpt

We describe a girl with a phenotype characterized by frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies who presents a 46,XX,r(21) karyotype. Array-comparative genomic hybridization using the Afflymetrix 100K DNA oligoarray set showed an interstitial deletion 21q22.3 of approximately 219 kb. Conventional karyotype of both parents was normal, and it was not possible to perform the...

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PMID: 22628242
DOI: 10.1002/ajmg.a.35351

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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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