The ring 14 syndrome

European Journal of Medical Genetics
Marcella ZollinoGiovanni Neri

Abstract

The ring 14 syndrome is a rare condition, whose precise clinical and genetic characterization is still limited. This review summarizes literature data and it describes our own experience with 27 patients with ring 14 syndrome. Clinically, the ring 14 syndrome is characterized by a recognizable phenotype of shortness of stature, distinctive facial appearance, microcephaly, scoliosis, and ocular abnormalities, consisting mainly of abnormal retinal pigmentation, but also retinitis pigmentosa, strabismus, glaucoma, and abnormal macula. Virtually all patients are intellectually delayed, with aggressive and hyperactive behavior in some. Drug-resistant, mainly focal in type, epilepsy is another highly consistent finding. In our own sample of patients the ring was complete, with no apparent loss of chromosome material, in 6/27 cases, while it showed a small terminal deletion, varying in size from 0.3 to 5 Mb, in the other 21. In two of these a cryptic 14q duplication of 2.5 and 9.7 Mb, respectively, proximal to the deleted segment, was also identified. Deleted rings were 75% paternal and 25% maternal in origin. UPD (14) was excluded in all cases. Based on literature review of linear deletions, affecting either the proximal or the dista...Continue Reading

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Citations

Jul 31, 2013·Gene·Arelí López-UriarteLaura E Martínez de Villarreal
Oct 13, 2012·Clinical Linguistics & Phonetics·Laura ZampiniGiovanni Neri
May 2, 2014·Clinical Linguistics & Phonetics·Laura ZampiniLaura D'Odorico
Oct 15, 2013·Epilepsia·Simona GiovanniniGiuseppe Gobbi
Oct 24, 2014·American Journal of Medical Genetics. Part a·Erika CarterJannine D Cody
Nov 26, 2015·Molecular Cytogenetics·Francesco NicitaAlessandro Capuano
Apr 23, 2015·Molecular Cytogenetics·Daniela AlosiNiels Tommerup
Nov 20, 2012·Epilepsy & Behavior : E&B·Nicola SpecchioFederico Vigevano
Jan 27, 2017·European Journal of Pediatrics·Laura ZampiniOrsetta Zuffardi
Feb 20, 2017·Journal of Medical Systems·Pedro SernadelaJosé Luís Oliveira
Nov 23, 2019·Ophthalmic Genetics·Huber M VasconcelosMark E Pennesi
Mar 19, 2020·Cytogenetic and Genome Research·Amal M MohamedGhada M H Abdel-Salam
Sep 13, 2017·Protoplasma·Inna E Pristyazhnyuk, Aleksei G Menzorov
Dec 29, 2020·Frontiers in Neurology·Angela PeronMaria Paola Canevini
Sep 29, 2019·European Journal of Medical Genetics·Flavie AderCaroline Schluth-Bolard

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