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Article

Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome.

American journal of medical genetics. Part A - 1 Feb 2018

Palumbo Pietro, Accadia Maria, Leone Maria P, Palladino Teresa, Stallone Raffaella, Carella Massimo, Palumbo Orazio

Abstract excerpt

Microdeletion of chromosome 22q13.31 is a very rare condition. Fourteen patients have been annotated in public databases but, to date, a clinical comparison has not been done and, consequently, a specific phenotype has not been delineated yet. We describe a patient showing neurodevelopmental disorders, dysmorphic features, and multiple congenital anomalies in which SNP array analysis revealed an interstitial 3.15...

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Source

Identifiers

PMID: 29193617
DOI: 10.1002/ajmg.a.38559

Genes

ATXN10
CELSR1
FBLN1

Provenance

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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