Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability
Abstract Background Several patients with the 2p16.1p15 microdeletion syndrome have been reported. However, microduplication in the 2p16.1p15 chromosomal region has only been reported in one case, and milder clinical features were present compared to those attributed to 2p16.1p15 microdeletion syndr...
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doaj-570ea6c091214340b5c81c594b4d09c62020-11-25T01:15:05ZengBMCMolecular Cytogenetics1755-81662018-06-011111610.1186/s13039-018-0388-yMicroduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disabilityLuca Lovrecic0Chiara Gnan1Federica Baldan2Alessandra Franzoni3Sara Bertok4Giuseppe Damante5Bertrand Isidor6Borut Peterlin7Clinical Institute of Medical Genetics, University Medical Center LjubljanaIstituto di Genetica Medica, Azienda Ospedaliero-Universitaria di UdineDipartimento di Medicina Interna e Specialità Mediche dell’Università Sapienza di RomaIstituto di Genetica Medica, Azienda Ospedaliero-Universitaria di UdineDepartment of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children’s Hospital, University Medical Center LjubljanaDipartimento di Area Medica, Università di UdineService de génétique médicale, CHU de NantesClinical Institute of Medical Genetics, University Medical Center LjubljanaAbstract Background Several patients with the 2p16.1p15 microdeletion syndrome have been reported. However, microduplication in the 2p16.1p15 chromosomal region has only been reported in one case, and milder clinical features were present compared to those attributed to 2p16.1p15 microdeletion syndrome. Some additional cases were deposited in DECIPHER database. Case presentation In this report we describe four further cases of 2p16.1p15 microduplication in four unrelated probands. They presented with mild gross motor delay, delayed speech and language development, and mild dysmorphic features. In addition, two probands have macrocephaly and one a congenital heart anomaly. Newly described cases share several phenotype characteristics with those detailed in one previously reported microduplication case. Conclusion The common features among patients are developmental delay, speech delay, mild to moderate intellectual disability and unspecific dysmorphic features. Two patients have bilateral clinodactyly of the 5th finger and two have bilateral 2nd-3rd toes syndactyly. Interestingly, as opposed to the deletion phenotype with some cases of microcephaly, 2 patients are reported with macrocephaly. The reported cases suggest that microduplication in 2p16.1p15 chromosomal region might be causally linked to developmental delay, speech delay, and mild intellectual disability.http://link.springer.com/article/10.1186/s13039-018-0388-y2p16.1p15Molecular karyotypingArray CGH, microduplicationDuplicationDevelopmental delayMacrocephaly |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Luca Lovrecic Chiara Gnan Federica Baldan Alessandra Franzoni Sara Bertok Giuseppe Damante Bertrand Isidor Borut Peterlin |
spellingShingle |
Luca Lovrecic Chiara Gnan Federica Baldan Alessandra Franzoni Sara Bertok Giuseppe Damante Bertrand Isidor Borut Peterlin Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability Molecular Cytogenetics 2p16.1p15 Molecular karyotyping Array CGH, microduplication Duplication Developmental delay Macrocephaly |
author_facet |
Luca Lovrecic Chiara Gnan Federica Baldan Alessandra Franzoni Sara Bertok Giuseppe Damante Bertrand Isidor Borut Peterlin |
author_sort |
Luca Lovrecic |
title |
Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability |
title_short |
Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability |
title_full |
Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability |
title_fullStr |
Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability |
title_full_unstemmed |
Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability |
title_sort |
microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability |
publisher |
BMC |
series |
Molecular Cytogenetics |
issn |
1755-8166 |
publishDate |
2018-06-01 |
description |
Abstract Background Several patients with the 2p16.1p15 microdeletion syndrome have been reported. However, microduplication in the 2p16.1p15 chromosomal region has only been reported in one case, and milder clinical features were present compared to those attributed to 2p16.1p15 microdeletion syndrome. Some additional cases were deposited in DECIPHER database. Case presentation In this report we describe four further cases of 2p16.1p15 microduplication in four unrelated probands. They presented with mild gross motor delay, delayed speech and language development, and mild dysmorphic features. In addition, two probands have macrocephaly and one a congenital heart anomaly. Newly described cases share several phenotype characteristics with those detailed in one previously reported microduplication case. Conclusion The common features among patients are developmental delay, speech delay, mild to moderate intellectual disability and unspecific dysmorphic features. Two patients have bilateral clinodactyly of the 5th finger and two have bilateral 2nd-3rd toes syndactyly. Interestingly, as opposed to the deletion phenotype with some cases of microcephaly, 2 patients are reported with macrocephaly. The reported cases suggest that microduplication in 2p16.1p15 chromosomal region might be causally linked to developmental delay, speech delay, and mild intellectual disability. |
topic |
2p16.1p15 Molecular karyotyping Array CGH, microduplication Duplication Developmental delay Macrocephaly |
url |
http://link.springer.com/article/10.1186/s13039-018-0388-y |
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