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Updated: Sep 15, 2025
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Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
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Copy number variants and their implications for developmental and behavioural problems in cleft lip and/or palate
Alexandros Rammos1,2,3, Rachel Blakey1,2,3, Charlotte A Dennison4,5
1Cleft Collective, University of Bristol, Oakfield House, Oakfield Grove, Bristol BS8 2BN, United Kingdom.
Human Molecular Genetics
|July 15, 2025
Summary
Children with cleft lip and/or palate (CL/P) have a higher prevalence of neurodevelopmental copy number variants (CNVs). Identifying these genetic factors aids in the early detection of developmental delays and behavioral issues in affected children.
Area of Science:
- Genetics
- Developmental Biology
- Pediatrics
Background:
- Cleft lip and/or palate (CL/P) is a common congenital anomaly.
- CL/P is associated with increased risks of neurodevelopmental and behavioral problems.
- Shared genetic factors may link CL/P and neurodevelopmental disorders.
Purpose of the Study:
- To determine the prevalence of neurodevelopmental copy number variants (CNVs) in children with CL/P.
- To investigate the association between CNVs and early developmental/behavioral problems in CL/P.
- To compare CNV rates in CL/P to the general population.
Main Methods:
- Utilized data from the Cleft Collective, a UK national cohort study.
- Analyzed rates of neurodevelopmental CNVs in children with CL/P.
- Compared CL/P cohort CNV prevalence with four population-based samples (ALSPAC, BiB, MCS, UK Biobank).
- Examined differences in CNV prevalence by cleft type (e.g., cleft palate only vs. cleft lip only).
- Assessed the risk of developmental delays and behavioral problems in CL/P children with and without CNVs.
Main Results:
- Children with CL/P exhibited a higher prevalence of neurodevelopmental CNVs (3.7%) compared to general population samples (1.7–2.3%).
- Children with cleft palate only were three times more likely to have a neurodevelopmental CNV than those with cleft lip only.
- CL/P children with neurodevelopmental CNVs showed increased likelihood of early developmental delays and behavioral problems by age 5.
Conclusions:
- Neurodevelopmental CNVs are more prevalent in children with CL/P.
- Specific cleft types, like cleft palate only, have a higher association with CNVs.
- Genetic testing for CNVs in CL/P may facilitate early identification of developmental needs.
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