1q21.1 Duplication Syndrome and Anorectal Malformations: A Literature Review and a New Case
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...
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2025-01-01
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| author | Maria Minelli Chiara Palka Bayard de Volo Melissa Alfonsi Serena Capanna Elisena Morizio Maria Enrica Miscia Gabriele Lisi Liborio Stuppia Valentina Gatta |
| author_facet | Maria Minelli Chiara Palka Bayard de Volo Melissa Alfonsi Serena Capanna Elisena Morizio Maria Enrica Miscia Gabriele Lisi Liborio Stuppia Valentina Gatta |
| author_sort | Maria Minelli |
| collection | DOAJ |
| description | 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. |
| format | Article |
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| institution | Kabale University |
| issn | 1467-3037 1467-3045 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | MDPI AG |
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| spelling | doaj-art-5888e58d448041e7b398fb53b784128c2025-01-24T13:27:26ZengMDPI AGCurrent Issues in Molecular Biology1467-30371467-30452025-01-014712610.3390/cimb470100261q21.1 Duplication Syndrome and Anorectal Malformations: A Literature Review and a New CaseMaria Minelli0Chiara Palka Bayard de Volo1Melissa Alfonsi2Serena Capanna3Elisena Morizio4Maria Enrica Miscia5Gabriele Lisi6Liborio Stuppia7Valentina Gatta8Unit of Molecular Genetics, Center for Advanced Studies and Technology (CAST), University “Gabriele d’Annunzio” of Chieti-Pescara, 66100 Chieti, ItalyUnit of Clinical Pediatrics, “SS. Annunziata” Hospital, 66100 Chieti, ItalyUnit of Assisted Reproductive Technologies, “Gaetano Bernabeo” Hospital, 66026 Ortona, ItalyUnit of Pathological Anatomy and Histology, “San Pio da Pietrelcina” Hospital, 66054 Vasto, ItalyUnit of Molecular Genetics, Center for Advanced Studies and Technology (CAST), University “Gabriele d’Annunzio” of Chieti-Pescara, 66100 Chieti, ItalyPediatric Surgery Unit, Department of Medicine and Aging Science, University “Gabriele d’Annunzio” of Chieti-Pescara-“Santo Spirito” Hospital, 65122 Pescara, ItalyPediatric Surgery Unit, Department of Medicine and Aging Science, University “Gabriele d’Annunzio” of Chieti-Pescara-“Santo Spirito” Hospital, 65122 Pescara, ItalyUnit of Molecular Genetics, Center for Advanced Studies and Technology (CAST), University “Gabriele d’Annunzio” of Chieti-Pescara, 66100 Chieti, ItalyUnit of Molecular Genetics, Center for Advanced Studies and Technology (CAST), University “Gabriele d’Annunzio” of Chieti-Pescara, 66100 Chieti, ItalyBackground: 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.https://www.mdpi.com/1467-3045/47/1/26ARMsCMA1q21.1 duplication |
| spellingShingle | Maria Minelli Chiara Palka Bayard de Volo Melissa Alfonsi Serena Capanna Elisena Morizio Maria Enrica Miscia Gabriele Lisi Liborio Stuppia Valentina Gatta 1q21.1 Duplication Syndrome and Anorectal Malformations: A Literature Review and a New Case Current Issues in Molecular Biology ARMs CMA 1q21.1 duplication |
| title | 1q21.1 Duplication Syndrome and Anorectal Malformations: A Literature Review and a New Case |
| title_full | 1q21.1 Duplication Syndrome and Anorectal Malformations: A Literature Review and a New Case |
| title_fullStr | 1q21.1 Duplication Syndrome and Anorectal Malformations: A Literature Review and a New Case |
| title_full_unstemmed | 1q21.1 Duplication Syndrome and Anorectal Malformations: A Literature Review and a New Case |
| title_short | 1q21.1 Duplication Syndrome and Anorectal Malformations: A Literature Review and a New Case |
| title_sort | 1q21 1 duplication syndrome and anorectal malformations a literature review and a new case |
| topic | ARMs CMA 1q21.1 duplication |
| url | https://www.mdpi.com/1467-3045/47/1/26 |
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