7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling
7q11.23 Microduplication (dup7q11.23) syndrome is a rare autosomal dominant disorder due to a recurring 1.5 to 1.8 Mb duplication of the Williams–Beuren Syndrome critical region. Dup7q11.23 has been associated with several neuro-behavioral characteristics such as low cognitive and adaptive functioni...
| Main Authors: | , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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MDPI AG
2020-11-01
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| Series: | Brain Sciences |
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| Online Access: | https://www.mdpi.com/2076-3425/10/11/839 |
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| author | Maria Lisa Dentici Paola Bergonzini Francesco Scibelli Cristina Caciolo Paola De Rose Francesca Cumbo Viola Alesi Rossella Capolino Ginevra Zanni Lorenzo Sinibaldi Antonio Novelli Marco Tartaglia Maria Cristina Digilio Bruno Dallapiccola Stefano Vicari Paolo Alfieri |
| author_facet | Maria Lisa Dentici Paola Bergonzini Francesco Scibelli Cristina Caciolo Paola De Rose Francesca Cumbo Viola Alesi Rossella Capolino Ginevra Zanni Lorenzo Sinibaldi Antonio Novelli Marco Tartaglia Maria Cristina Digilio Bruno Dallapiccola Stefano Vicari Paolo Alfieri |
| author_sort | Maria Lisa Dentici |
| collection | DOAJ |
| description | 7q11.23 Microduplication (dup7q11.23) syndrome is a rare autosomal dominant disorder due to a recurring 1.5 to 1.8 Mb duplication of the Williams–Beuren Syndrome critical region. Dup7q11.23 has been associated with several neuro-behavioral characteristics such as low cognitive and adaptive functioning, expressive language impairment, anxiety problems and autistic features. In the present study, we analyze the clinical features of ten individuals in which array-CGH detected dup7q11.23, spanning from 1.4 to 2.1 Mb. The clinical characteristics associated with dup7q11.23 are discussed with respect to its reciprocal deletion. Consistent with previous studies, we confirm that individuals with dup7q11.23 syndrome do not have a homogeneous clinical profile, although some recurring dysmorphic features were found, including macrocephaly, prominent forehead, elongated palpebral fissures, thin lip vermilion and microstomia. Minor congenital malformations include patent ductus arteriosus, cryptorchidism and pes planus. A common finding is hypotonia and joint laxity, resulting in mild motor delay. Neuropsychological and psychodiagnostic assessment confirm that mild cognitive impairment, expressive language deficits and anxiety are recurring neurobehavioral features. New insights into adaptive, psychopathological and neurodevelopmental profiles are discussed. |
| first_indexed | 2024-03-10T14:55:35Z |
| format | Article |
| id | doaj.art-1ed9f4cb0624424c914be8f1e24d62f5 |
| institution | Directory Open Access Journal |
| issn | 2076-3425 |
| language | English |
| last_indexed | 2024-03-10T14:55:35Z |
| publishDate | 2020-11-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Brain Sciences |
| spelling | doaj.art-1ed9f4cb0624424c914be8f1e24d62f52023-11-20T20:36:55ZengMDPI AGBrain Sciences2076-34252020-11-01101183910.3390/brainsci101108397q11.23 Microduplication Syndrome: Clinical and Neurobehavioral ProfilingMaria Lisa Dentici0Paola Bergonzini1Francesco Scibelli2Cristina Caciolo3Paola De Rose4Francesca Cumbo5Viola Alesi6Rossella Capolino7Ginevra Zanni8Lorenzo Sinibaldi9Antonio Novelli10Marco Tartaglia11Maria Cristina Digilio12Bruno Dallapiccola13Stefano Vicari14Paolo Alfieri15Medical Genetic Unit, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyChild and Adolescent Neuropsychiatry Unit, Department of Neurological and Psychiatric Science, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyChild and Adolescent Neuropsychiatry Unit, Department of Neurological and Psychiatric Science, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyChild and Adolescent Neuropsychiatry Unit, Department of Neurological and Psychiatric Science, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyChild and Adolescent Neuropsychiatry Unit, Department of Neurological and Psychiatric Science, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyChild and Adolescent Neuropsychiatry Unit, Department of Neurological and Psychiatric Science, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyLaboratory of Medical Genetics, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyMedical Genetic Unit, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyGenetics and Rare Diseases Research Division, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyMedical Genetic Unit, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyLaboratory of Medical Genetics, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyGenetics and Rare Diseases Research Division, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyMedical Genetic Unit, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyScientific Directorate, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyChild and Adolescent Neuropsychiatry Unit, Department of Neurological and Psychiatric Science, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyChild and Adolescent Neuropsychiatry Unit, Department of Neurological and Psychiatric Science, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, Italy7q11.23 Microduplication (dup7q11.23) syndrome is a rare autosomal dominant disorder due to a recurring 1.5 to 1.8 Mb duplication of the Williams–Beuren Syndrome critical region. Dup7q11.23 has been associated with several neuro-behavioral characteristics such as low cognitive and adaptive functioning, expressive language impairment, anxiety problems and autistic features. In the present study, we analyze the clinical features of ten individuals in which array-CGH detected dup7q11.23, spanning from 1.4 to 2.1 Mb. The clinical characteristics associated with dup7q11.23 are discussed with respect to its reciprocal deletion. Consistent with previous studies, we confirm that individuals with dup7q11.23 syndrome do not have a homogeneous clinical profile, although some recurring dysmorphic features were found, including macrocephaly, prominent forehead, elongated palpebral fissures, thin lip vermilion and microstomia. Minor congenital malformations include patent ductus arteriosus, cryptorchidism and pes planus. A common finding is hypotonia and joint laxity, resulting in mild motor delay. Neuropsychological and psychodiagnostic assessment confirm that mild cognitive impairment, expressive language deficits and anxiety are recurring neurobehavioral features. New insights into adaptive, psychopathological and neurodevelopmental profiles are discussed.https://www.mdpi.com/2076-3425/10/11/839dup7q11.23duplicationWilliams–Beuren Syndromeanxiety disorderintellectual disabilitycongenital anomalies |
| spellingShingle | Maria Lisa Dentici Paola Bergonzini Francesco Scibelli Cristina Caciolo Paola De Rose Francesca Cumbo Viola Alesi Rossella Capolino Ginevra Zanni Lorenzo Sinibaldi Antonio Novelli Marco Tartaglia Maria Cristina Digilio Bruno Dallapiccola Stefano Vicari Paolo Alfieri 7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling Brain Sciences dup7q11.23 duplication Williams–Beuren Syndrome anxiety disorder intellectual disability congenital anomalies |
| title | 7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling |
| title_full | 7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling |
| title_fullStr | 7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling |
| title_full_unstemmed | 7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling |
| title_short | 7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling |
| title_sort | 7q11 23 microduplication syndrome clinical and neurobehavioral profiling |
| topic | dup7q11.23 duplication Williams–Beuren Syndrome anxiety disorder intellectual disability congenital anomalies |
| url | https://www.mdpi.com/2076-3425/10/11/839 |
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