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Article

Expanding the Neurological Phenotype of Ring Chromosome 10 Syndrome: A Case Report and Review of the Literature

1
Child Neurology and Psychiatry Unit, IRCCS Istituto delle Scienze Neurologiche di Bologna, 40138 Bologna, Italy
2
Dipartimento di Scienze Mediche E Chirurgiche (DIMEC), University of Bologna, 40138 Bologna, Italy
3
UO Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy
4
Neonatal Intensive Care Unit, S.Orsola Malpighi Hospital, 40138 Bologna, Italy
5
Child Neurology and Psychiatry Unit, Azienda USL della Romagna, 48121 Ravenna, Italy
6
IRCCS Istituto Delle Scienze Neurologiche di Bologna, UOC Neuroradiologia, 40139 Bologna, Italy
*
Author to whom correspondence should be addressed.
Academic Editor: Diego Centonze
Received: 1 September 2021 / Revised: 23 September 2021 / Accepted: 24 September 2021 / Published: 26 September 2021
(This article belongs to the Special Issue Study on Genotypes and Phenotypes of Pediatric Clinical Rare Diseases)
Ring chromosome 10 [r(10)] syndrome is a rare genetic condition, currently described in the medical literature in a small number of case report studies. Typical clinical features include microcephaly, short stature, facial dysmorphisms, ophthalmologic abnormalities and genitourinary malformations. We report a novel case of r(10) syndrome and review the neurological and neuroradiological phenotypes of the previously described cases. Our patient, a 3 year old Italian girl, represents the 20th case of r(10) syndrome described to date. Intellectual disability/developmental delay (ID/DD), microcephaly, strabismus, hypotonia, stereotyped/aggressive behaviors and electroencephalographic abnormalities were identified in our patient, and in a series of previous cases. A brain MRI disclosed a complex malformation involving both the vermis and cerebellar hemispheres; in the literature, posterior cranial fossa abnormalities were documented by CT scan in another case. Two genes deleted in our case (ZMYND11 in 10p and EBF3 in 10q) are involved in autosomal dominant neurodevelopmental disorders, characterized by different expressions of brain and posterior cranial fossa abnormalities, ID/DD, hypotonia and behavioral problems. Our case expands the neurological and neuroradiological phenotype of r(10) syndrome. Although r(10) syndrome represents an extremely rare condition, with a clinical characterization limited to case reports, the recurrence of specific neurological and neuroradiological features suggests the need for specific genotype-phenotype studies. View Full-Text
Keywords: ring chromosome 10; r10; r(10); neurology; neuroradiology; magnetic resonance imaging (MRI); ZMYND11; EBF3 ring chromosome 10; r10; r(10); neurology; neuroradiology; magnetic resonance imaging (MRI); ZMYND11; EBF3
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MDPI and ACS Style

Pruccoli, J.; Graziano, C.; Locatelli, C.; Maltoni, L.; Sheikh Maye, H.A.; Cordelli, D.M. Expanding the Neurological Phenotype of Ring Chromosome 10 Syndrome: A Case Report and Review of the Literature. Genes 2021, 12, 1513. https://0-doi-org.brum.beds.ac.uk/10.3390/genes12101513

AMA Style

Pruccoli J, Graziano C, Locatelli C, Maltoni L, Sheikh Maye HA, Cordelli DM. Expanding the Neurological Phenotype of Ring Chromosome 10 Syndrome: A Case Report and Review of the Literature. Genes. 2021; 12(10):1513. https://0-doi-org.brum.beds.ac.uk/10.3390/genes12101513

Chicago/Turabian Style

Pruccoli, Jacopo, Claudio Graziano, Chiara Locatelli, Lucia Maltoni, Hodman A. Sheikh Maye, and Duccio M. Cordelli 2021. "Expanding the Neurological Phenotype of Ring Chromosome 10 Syndrome: A Case Report and Review of the Literature" Genes 12, no. 10: 1513. https://0-doi-org.brum.beds.ac.uk/10.3390/genes12101513

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