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Article

[Phelan McDermid Syndrome: five patients description and report on the first case described in conjoined twins].

Archivos argentinos de pediatria - 1 Jan 2000

Canonero Ivana, Montes Cecilia, Sturich Alicia, Boterón Mariana, Asinari Mariana, Cuestas Eduardo, Rossi Norma

Abstract excerpt

Phelan McDermid Syndrome is caused by the loss of genetic material in a chromosome from pair 22, at the band q13.3. We describe five patients with deletion 22q13.3 in order to establish a genotype-phenotype association, and report the first case described in conjoined twins. We analyzed the perinatal history, psychomotor behavior, language, and the presence of minor dysmorphism. Karyotypes and in situ...

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Source

Identifiers

PMID: 22760760
DOI: 10.5546/aap.2012.e50

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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