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Article

Phenotypic spectrum in patients with 16p11.2 deletion: a single tertiary centre experience in Türkiye.

The Turkish journal of pediatrics - 30 Jun 2026

Kablan Ahmet, Bakır Abdüllatif, Taşdelen Elifcan, Dinçsoy Bir Firdevs, Kolkıran Abdulkerim, Ataseven Kulalı Melike, Atasoy Ergin, Menderes Deniz, Efe Ayşegül, Kılıç Mustafa, Erdal İzzet

Abstract excerpt

BACKGROUND: The 16p11.2 deletion is one of the most frequent recurrent copy number variations associated with a broad neurodevelopmental and phenotypic spectrum. Despite its relatively well-characterized genomic region, clinical expressivity remains highly variable, posing challenges for diagnosis and management. METHODS: We conducted a retrospective single-centre study of 25 individuals with molecularly...

Topics

Humans
Female
Chromosomes, Human, Pair 16
Retrospective Studies
Phenotype
Chromosome Deletion
Male
Child
Turkey
Child, Preschool
Chromosome Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Adolescent

Infant

Intellectual Disability

Autistic Disorder

Tertiary Care Centers

Source

Identifiers

PMID: 42497432
DOI: 10.24953/turkjpediatr.2026.7003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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