Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype.

doi:10.1186/s40246-024-00662-0

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Article

Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype.

Human genomics - 4 Sept 2024

Elsayed Liena Elbaghir Omer, AlHarbi Norah Ayed, Alqarni Ashwaq Mohammed, Eltayeb Huda Hussein Elwasila, Mostafa Noura Mostafa Mohamed, Abdulrahim Maha Mohammed, Zaid Hadeel Ibrahim Bin, Alanzi Latifah Mansour, Ababtain Sarah Abdullah, Aldulaijan Khawlah, Aloyouni Sheka Yagub, Othman Moneeb Abdullah Kassem, Alkheilewi Mohammad Abdullah, Binduraihem Adel Mohammed, Alrukban Hadeel Abdollah, Ahmed Hiba Yousif, AlRadini Faten Abdullah, Alahdal Hadil Mohammad, Mushiba Aziza Mufareh, Alzaher Omaima Abdulazeem

Abstract excerpt

BACKGROUND: Chromosome 16p11.2 deletions and duplications were found to be the second most common copy number variation (CNV) reported in cases with clinical presentation suggestive of chromosomal syndromes. Chromosome 16p11.2 deletion syndrome shows remarkable phenotypic heterogeneity with a wide variability of presentation extending from normal development and cognition to severe phenotypes. The clinical...

Topics

Humans
Chromosomes, Human, Pair 16
Chromosome Deletion
Phenotype
Microcephaly
Female
Dandy-Walker Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

DNA Copy Number Variations

Intellectual Disability

Chromosome Disorders

Child

Male

Saudi Arabia

Child, Preschool

Autistic Disorder

Source

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Identifiers

PMID: 39232803
DOI: 10.1186/s40246-024-00662-0
PMCID: PMC11376027

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