Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series
Abstract Background Recurrent reciprocal 1q21.1 deletions and duplications have been associated with variable phenotypes. Phenotypic features described in association with 1q21.1 microdeletions include developmental delay, craniofacial dysmorphism and congenital anomalies. The 1q21.1 reciprocal dupl...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2017-07-01
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| Series: | Italian Journal of Pediatrics |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13052-017-0380-x |
| _version_ | 1818132557439434752 |
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| author | Martina Busè Helenia C. Cuttaia Daniela Palazzo Marcella V. Mazara Salvatrice A. Lauricella Michela Malacarne Mauro Pierluigi Simona Cavani Maria Piccione |
| author_facet | Martina Busè Helenia C. Cuttaia Daniela Palazzo Marcella V. Mazara Salvatrice A. Lauricella Michela Malacarne Mauro Pierluigi Simona Cavani Maria Piccione |
| author_sort | Martina Busè |
| collection | DOAJ |
| description | Abstract Background Recurrent reciprocal 1q21.1 deletions and duplications have been associated with variable phenotypes. Phenotypic features described in association with 1q21.1 microdeletions include developmental delay, craniofacial dysmorphism and congenital anomalies. The 1q21.1 reciprocal duplication has been associated with macrocephaly or relative macrocephaly, frontal bossing, hypertelorism, developmental delay, intellectual disability and autism spectrum disorder. Methods Our study describes seven patients, who were referred to us for developmental delay/intellectual disability, dysmorphic features and, in some cases, congenital anomalies, in whom we identified 1q21.1 CNVs by array-CGH. Results Our data confirm the extreme phenotypic variability associated with 1q21.1 microdeletion and microduplication. We observed common phenotypic features, described in previous studies, but we also described, for the first time, congenital hypothyroidism in association with 1q21.1 deletion and trigonocephaly associated with 1q21.1 duplication. Conclusions The aim of this study is to contribute to the definition of the phenotype associated with reciprocal 1q21.1 deletions and duplications. |
| first_indexed | 2024-12-11T08:38:43Z |
| format | Article |
| id | doaj.art-19625540c407409691464d02ba39f10f |
| institution | Directory Open Access Journal |
| issn | 1824-7288 |
| language | English |
| last_indexed | 2024-12-11T08:38:43Z |
| publishDate | 2017-07-01 |
| publisher | BMC |
| record_format | Article |
| series | Italian Journal of Pediatrics |
| spelling | doaj.art-19625540c407409691464d02ba39f10f2022-12-22T01:14:18ZengBMCItalian Journal of Pediatrics1824-72882017-07-014311810.1186/s13052-017-0380-xExpanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case seriesMartina Busè0Helenia C. Cuttaia1Daniela Palazzo2Marcella V. Mazara3Salvatrice A. Lauricella4Michela Malacarne5Mauro Pierluigi6Simona Cavani7Maria Piccione8Department of Sciences for Health Promotion and Mother and Child Care “Giuseppe D’Alessandro”, University of PalermoLaboratory of Medical Cytogenetic, AOOR Villa Sofia-CervelloRegional Referral Centre for Rare Genetic and Chromosomal Diseases, AOOR Villa Sofia-CervelloLaboratory of Medical Cytogenetic, AOOR Villa Sofia-CervelloLaboratory of Medical Cytogenetic, AOOR Villa Sofia-CervelloS.C. Laboratory of Human Genetics, E.O. Galliera HospitalS.C. Laboratory of Human Genetics, E.O. Galliera HospitalS.C. Laboratory of Human Genetics, E.O. Galliera HospitalDepartment of Sciences for Health Promotion and Mother and Child Care “Giuseppe D’Alessandro”, University of PalermoAbstract Background Recurrent reciprocal 1q21.1 deletions and duplications have been associated with variable phenotypes. Phenotypic features described in association with 1q21.1 microdeletions include developmental delay, craniofacial dysmorphism and congenital anomalies. The 1q21.1 reciprocal duplication has been associated with macrocephaly or relative macrocephaly, frontal bossing, hypertelorism, developmental delay, intellectual disability and autism spectrum disorder. Methods Our study describes seven patients, who were referred to us for developmental delay/intellectual disability, dysmorphic features and, in some cases, congenital anomalies, in whom we identified 1q21.1 CNVs by array-CGH. Results Our data confirm the extreme phenotypic variability associated with 1q21.1 microdeletion and microduplication. We observed common phenotypic features, described in previous studies, but we also described, for the first time, congenital hypothyroidism in association with 1q21.1 deletion and trigonocephaly associated with 1q21.1 duplication. Conclusions The aim of this study is to contribute to the definition of the phenotype associated with reciprocal 1q21.1 deletions and duplications.http://link.springer.com/article/10.1186/s13052-017-0380-x1q21.1 deletion1q21.1 duplicationArray-CGHDevelopmental delayDysmorphism |
| spellingShingle | Martina Busè Helenia C. Cuttaia Daniela Palazzo Marcella V. Mazara Salvatrice A. Lauricella Michela Malacarne Mauro Pierluigi Simona Cavani Maria Piccione Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series Italian Journal of Pediatrics 1q21.1 deletion 1q21.1 duplication Array-CGH Developmental delay Dysmorphism |
| title | Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series |
| title_full | Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series |
| title_fullStr | Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series |
| title_full_unstemmed | Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series |
| title_short | Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series |
| title_sort | expanding the phenotype of reciprocal 1q21 1 deletions and duplications a case series |
| topic | 1q21.1 deletion 1q21.1 duplication Array-CGH Developmental delay Dysmorphism |
| url | http://link.springer.com/article/10.1186/s13052-017-0380-x |
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