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Microduplication 3p26.3p24.3 and 4q34.3q35.2 Microdeletion Identified in a Patient with Developmental Delay Associated with Brain Malformation

Microdeletions and microduplications are involved in many of prenatal and postnatal cases of multiple congenital malformations (MCM), developmental delay/intellectual disability (DD/ID), and autism spectrum disorders (ASD). Molecular karyotyping analysis (MCA), performed by DNA microarray technology...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Georgeta Cardos, Nicolae Gica, Corina Gica, Anca Maria Panaitescu, Mariana Predescu, Gheorghe Peltecu, Florina Mihaela Nedelea
Format: Artigo
Sprache:Inglês
Veröffentlicht: MDPI AG 2022-11-01
Schriftenreihe:Diagnostics
Schlagworte:
SNP-array
molecular karyotyping
intellectual disability
Online-Zugang:https://www.mdpi.com/2075-4418/12/11/2887
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