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Article

[The Phelan-McDermid syndrome (22q13 microdeletion) - case report].

Medycyna wieku rozwojowego - 1 Jan 2000

Slezak Ryszard, Laczmańska Izabela

Abstract excerpt

Sub telomeric aberrations area frequent cause of child developmental delay. Because ofa non-characteristic course and great variation of patients' appearance in most of the subtelomeric microdeletion syndromes, diagnosis of dysmorphic features is difficult. Phelan-McDermid syndrome (22q 13 microdeletion syndrome) is characterized by generalized hypotonia, global psychomotor development delay, absent or delayed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21786519

Provenance

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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