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Updated: May 31, 2025
Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
1q21.1 Duplication Syndrome and Anorectal Malformations: A Literature Review and a New Case
Maria Minelli1, Chiara Palka Bayard de Volo2, Melissa Alfonsi3
1Unit of Molecular Genetics, Center for Advanced Studies and Technology (CAST), University "Gabriele d'Annunzio" of Chieti-Pescara, 66100 Chieti, Italy.
Insights
Copy number variants (CNVs) in the 1q21.1 region are linked to congenital anomalies like anorectal malformations (ARMs). This study highlights the 1q21.1 duplication in a patient with ARM, suggesting genetic evaluation for isolated congenital malformations.
Area of Science:
- Pediatric Surgery
- Clinical Genetics
- Developmental Biology
Background:
- Anorectal malformations (ARMs) are common congenital anomalies with a wide spectrum of presentations.
- Genetic and environmental factors contribute to ARM development.
- Copy number variants (CNVs), particularly 1q21.1 duplications, are increasingly recognized in developmental disorders and congenital anomalies.
Observation:
- A male patient presented with an anorectal malformation (ARM).
- Array-comparative genomic hybridization (array-CGH) detected a 1q21.1 duplication in the patient.
- The duplication was inherited from his healthy mother.
Findings:
- The 1q21.1 duplication is associated with congenital anomalies, including ARMs.
- 1q21.1 duplications can be present in individuals without apparent phenotypic abnormalities.
- This case contributes to defining the phenotype associated with 1q21.1 duplications.
Implications:
- Genetic evaluation should be considered for patients with isolated congenital malformations.
- Early diagnosis of genetic conditions like 1q21.1 duplication can lead to improved treatment strategies.
- Understanding the genetic basis of ARMs is crucial for diagnosis and management.
Background:
Anorectal malformations (ARMs) are a common pediatric surgical problem with an incidence of 1:1500 to 1:5000 live births. The phenotypical spectrum extends from anal stenosis to imperforate anus with or without anal fistula to persistent cloaca. They can manifest as either non-syndromic or syndromic conditions. Various environmental and genetic risk factors have been elucidated. The widespread use of genetic screening tests for the investigation of developmental disorders increased the recognition of copy number variants (CNVs) of the 1q21.1 region. Duplications have also been associated with a multitude of congenital anomalies, such as heart disease, short stature, scoliosis, urogenital, and ARMs, and they have also been found in healthy individuals. The aim of this manuscript is to contribute to the definition of the phenotype associated with 1q21.1 duplications.
Case Presentation:
The present case describes a male, referred to us for an ARM, in whom array-comparative genomic hybridization (array-CGH) identified 1q21.1 duplication inherited from his healthy mother. No other genetic test was performed on the patient.
Conclusions:
We propose considering genetic evaluation and analysis in patients with only one congenital malformation in order to eventually make an early diagnosis and a better quality of treatments.
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