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A De Novo 8q22.2q22.3 Interstitial Microdeletion in a Girl with Developmental Delay and Congenital Defects.

Medicina (Kaunas, Lithuania) - 15 Jun 2023

Kalinauskiene Ruta, Brazdziunaite Deimante, Burokiene Neringa, Dirsė Vaidas, Morkuniene Ausra, Utkus Algirdas, Preiksaitiene Egle

Abstract excerpt

Background and Objectives: Only nine patients with interstitial de novo 8q22.2q22.3 microdeletions have been reported to date. The objective of this report is to present clinical features of a new patient with an 8q22.2q22.3 microdeletion, to compare her phenotype to other previously reported patients, and to further expand the phenotype associated with this microdeletion. Materials and Methods: We describe an...

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Identifiers

PMID: 37374360
DOI: 10.3390/medicina59061156
PMCID: PMC10302461

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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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