Case report: A new de novo 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature review
Interstitial deletions involving 6q chromosomal region are rare. Less than 30 patients have been described to date, and fewer have been characterized by high-resolution techniques, such as chromosomal microarray. Deletions involving 6q21q22.1 region are associated with an extremely wide and heteroge...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2024-02-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2023.1315291/full |
| _version_ | 1827357363730907136 |
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| author | Chiara Minotti Chiara Minotti Ludovico Graziani Ludovico Graziani Ester Sallicandro Maria Cristina Digilio Roberto Falasca Viola Alesi Giuseppe Novelli Giuseppe Novelli Maria Lisa Dentici Sara Loddo Antonio Novelli |
| author_facet | Chiara Minotti Chiara Minotti Ludovico Graziani Ludovico Graziani Ester Sallicandro Maria Cristina Digilio Roberto Falasca Viola Alesi Giuseppe Novelli Giuseppe Novelli Maria Lisa Dentici Sara Loddo Antonio Novelli |
| author_sort | Chiara Minotti |
| collection | DOAJ |
| description | Interstitial deletions involving 6q chromosomal region are rare. Less than 30 patients have been described to date, and fewer have been characterized by high-resolution techniques, such as chromosomal microarray. Deletions involving 6q21q22.1 region are associated with an extremely wide and heterogeneous clinical spectrum, thus genotype–phenotype correlation based on the size of the rearranged region and on the involved genes is complex, even among individuals with overlapping deletions. Here we describe the phenotypic and molecular characterization of a new 6q interstitial deletion in a girl with developmental delay, intellectual disability, cerebellar vermis hypoplasia, facial peculiar characteristics, ataxia and ocular abnormalities. Microarray analysis of the proposita revealed a 7.9 Mb interstitial de novo deletion at 6q21q22.1 chromosomal region, which spanned from nucleotides 108,337,770 to 116,279,453 (GRCh38/hg38). The present case, alongside with a systematic review of the literature, provides further evidence that could aid to the definition of the Smallest Region of Overlap and of the genomic traits that are associated with particular phenotypes, focusing on neurological findings and especially on cerebellar anomalies. |
| first_indexed | 2024-03-08T05:30:35Z |
| format | Article |
| id | doaj.art-144f7efe810743aeb4205d3431680495 |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-03-08T05:30:35Z |
| publishDate | 2024-02-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-144f7efe810743aeb4205d34316804952024-02-06T04:57:44ZengFrontiers Media S.A.Frontiers in Genetics1664-80212024-02-011410.3389/fgene.2023.13152911315291Case report: A new de novo 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature reviewChiara Minotti0Chiara Minotti1Ludovico Graziani2Ludovico Graziani3Ester Sallicandro4Maria Cristina Digilio5Roberto Falasca6Viola Alesi7Giuseppe Novelli8Giuseppe Novelli9Maria Lisa Dentici10Sara Loddo11Antonio Novelli12Medical Genetics Unit, Translational Pediatrics and Clinical Genetics Research Area, Bambino Gesù Children Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, ItalyMedical Genetics Section, Depepartment of Biomedicine and Prevention, Tor Vergata University of Rome, Rome, ItalyMedical Genetics Unit, Translational Pediatrics and Clinical Genetics Research Area, Bambino Gesù Children Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, ItalyMedical Genetics Section, Depepartment of Biomedicine and Prevention, Tor Vergata University of Rome, Rome, ItalyTranslational Cytogenomics Research Unit, Bambino Gesù Children’s Hospital, IRCCS, Rome, ItalyMedical Genetics Unit, Translational Pediatrics and Clinical Genetics Research Area, Bambino Gesù Children Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, ItalyTranslational Cytogenomics Research Unit, Bambino Gesù Children’s Hospital, IRCCS, Rome, ItalyTranslational Cytogenomics Research Unit, Bambino Gesù Children’s Hospital, IRCCS, Rome, ItalyMedical Genetics Section, Depepartment of Biomedicine and Prevention, Tor Vergata University of Rome, Rome, ItalyMedical Genetics Lab, Tor Vergata Hospital, Rome, ItalyMedical Genetics Unit, Translational Pediatrics and Clinical Genetics Research Area, Bambino Gesù Children Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, ItalyTranslational Cytogenomics Research Unit, Bambino Gesù Children’s Hospital, IRCCS, Rome, ItalyTranslational Cytogenomics Research Unit, Bambino Gesù Children’s Hospital, IRCCS, Rome, ItalyInterstitial deletions involving 6q chromosomal region are rare. Less than 30 patients have been described to date, and fewer have been characterized by high-resolution techniques, such as chromosomal microarray. Deletions involving 6q21q22.1 region are associated with an extremely wide and heterogeneous clinical spectrum, thus genotype–phenotype correlation based on the size of the rearranged region and on the involved genes is complex, even among individuals with overlapping deletions. Here we describe the phenotypic and molecular characterization of a new 6q interstitial deletion in a girl with developmental delay, intellectual disability, cerebellar vermis hypoplasia, facial peculiar characteristics, ataxia and ocular abnormalities. Microarray analysis of the proposita revealed a 7.9 Mb interstitial de novo deletion at 6q21q22.1 chromosomal region, which spanned from nucleotides 108,337,770 to 116,279,453 (GRCh38/hg38). The present case, alongside with a systematic review of the literature, provides further evidence that could aid to the definition of the Smallest Region of Overlap and of the genomic traits that are associated with particular phenotypes, focusing on neurological findings and especially on cerebellar anomalies.https://www.frontiersin.org/articles/10.3389/fgene.2023.1315291/full6q21q22.1interstitial deletioncerebellar vermis hypoplasiachromosomal microarray analysisdevelopmental delay |
| spellingShingle | Chiara Minotti Chiara Minotti Ludovico Graziani Ludovico Graziani Ester Sallicandro Maria Cristina Digilio Roberto Falasca Viola Alesi Giuseppe Novelli Giuseppe Novelli Maria Lisa Dentici Sara Loddo Antonio Novelli Case report: A new de novo 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature review Frontiers in Genetics 6q21q22.1 interstitial deletion cerebellar vermis hypoplasia chromosomal microarray analysis developmental delay |
| title | Case report: A new de novo 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature review |
| title_full | Case report: A new de novo 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature review |
| title_fullStr | Case report: A new de novo 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature review |
| title_full_unstemmed | Case report: A new de novo 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature review |
| title_short | Case report: A new de novo 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature review |
| title_sort | case report a new de novo 6q21q22 1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature review |
| topic | 6q21q22.1 interstitial deletion cerebellar vermis hypoplasia chromosomal microarray analysis developmental delay |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2023.1315291/full |
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