Rare最新文献

{"title":"Noma (Cancrum oris) in Africa: A newly added neglected tropical disease","authors":"Ridwan Olamilekan Adesola ,&nbsp;Favour Akinfemi Ajibade ,&nbsp;Mahmud Ibrahim Agaie","doi":"10.1016/j.rare.2024.100031","DOIUrl":"https://doi.org/10.1016/j.rare.2024.100031","url":null,"abstract":"<div><p>Noma is an overwhelming orofacial necrotizing disease and most cases occur in malnourished people, especially children. It is most common in tropical and subtropical regions of sub-Saharan Africa. Its high death rate, serious physical and psychological morbidity, stigmatization, and social discrimination are all contributing factors. Common public health interventions could prevent, control, and even eradicate noma. However, it is often disregarded when it comes to public health awareness, in-depth scientific research, and funding for prevention, treatment, and research. Noma was added to the list of neglected tropical diseases (NTDs) on December 15, 2023, as it satisfies all WHO criteria for this classification. This paper aims to provide an updated global health review on noma in Africa to reduce its burden on the continent. Healthcare professionals need to be more knowledgeable about noma, and systematic worldwide data collection and documentation regarding noma need to be encouraged to keep track of and eradicate the disease in Africa.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100031"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000140/pdfft?md5=8c1e6e48bf00a08798bf56a84218ce33&pid=1-s2.0-S2950008724000140-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140647535","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An expansion of the phenotype in individuals with SYNCRIP-Related Neurodevelopmental Disorder","authors":"Tooba Shafiq ,&nbsp;Joanna L. Feng ,&nbsp;Lindsay Phillips ,&nbsp;Kara Murias ,&nbsp;Marcia Ferguson ,&nbsp;Kristin Baranano ,&nbsp;Alaina Acchione ,&nbsp;Patricia Kipkemoi ,&nbsp;Collins Kipkoech ,&nbsp;Eunice Chepkemoi ,&nbsp;Amina Abubakar ,&nbsp;Charles Newton ,&nbsp;Celia van der Merwe ,&nbsp;Emily O’Heir ,&nbsp;Alice Galvin ,&nbsp;Aixa Gonzalez Garcia ,&nbsp;Alisha D’Souza ,&nbsp;Jennifer Stefanich ,&nbsp;Amelle Shillington ,&nbsp;Annabelle Tuttle ,&nbsp;Madelyn A. Gillentine","doi":"10.1016/j.rare.2024.100052","DOIUrl":"10.1016/j.rare.2024.100052","url":null,"abstract":"<div><div>Disruption of genes within the <em>HNRNP</em> gene family has been observed in neurodevelopmental and neurodegenerative diseases. The HNRNP-Related Neurodevelopmental Disorders (HNRNP-RNDDs), while each unique, have been recently described with similar clinical and molecular features across variation in several genes. However, the phenotypic information on these patients is still lacking. In this case series we aim to describe the phenotypes that are associated with SYNCRIP-Related Neurodevelopmental Disorder (SYNCRIP-RNDD). We describe in depth ten novel individuals and one previously published individual with mostly <em>de novo</em> and predicted damaging variants in <em>SYNCRIP</em>, consistent with a diagnosis of SYNCRIP-RNDD. We also describe previously published patients, many of which are from large cohort studies, as well as individuals from patient databases. Here, we expand the phenotype of SYNCRIP-RNDD beyond a generic neurodevelopmental disorder to a variable syndrome consisting of mild to borderline developmental delay/intellectual disability, speech and language delay, behavioral differences such as autism spectrum disorder, structural brain anomalies, hypotonia, and seizures. Inconsistent dysmorphic features were also observed, with the few recurrent findings including long eyelashes, mildly deep-set eyes, prominent ears, and thin or thick lips. This study increases our understanding of SYNCRIP-RNDD, as well as HNRNP-RNDDs broadly.</div></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100052"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143096972","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Erdheim-Chester disease: Challenges in diagnosing and treating a rare multisystemic disease in Malaysia","authors":"Qinglin Lau ,&nbsp;De Yee Gan ,&nbsp;Soon Ching Gan ,&nbsp;Nor Haisyah Binti Noor Kasim ,&nbsp;Ahmad Zakiyy Bin Mohamed","doi":"10.1016/j.rare.2024.100027","DOIUrl":"https://doi.org/10.1016/j.rare.2024.100027","url":null,"abstract":"<div><p>Erdheim-Chester disease (ECD) or lipoid granulomatosis is a rare non-langerhan cell histiocytosis disease characterised by infiltration of foamy histocytes into the affected organs of different systems. ECD lesions are recognised to cause progressive scarring and fibrosis that pervade multiple organs and systems. Being rare and notoriously insidious, ECD is often diagnosed late. In Malaysia, to date, there is only 1 case report pertaining to this rare disease in which the patient has unfortunately passed away just 4 months after diagnosis. In this case report, we acquired the opportunity to describe the multisystemic involvement of ECD in our patient. Furthermore, over the course of the 27-month endeavour, numerous obstacles have been identified, including our patient's less-than-ideal health-seeking behaviour as well as limitations with regard to imaging, laboratory modalities, and therapeutics. This case will highlight the unique challenges we overcame to solve this clinical conundrum in our publicly funded tertiary hospital in Malaysia.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100027"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000103/pdfft?md5=37453881649a4efc90657014ad150429&pid=1-s2.0-S2950008724000103-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140542572","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Family and caregiver perspectives on gene therapy for Rett syndrome","authors":"Keri Ramsey ,&nbsp;Madison LaFleur ,&nbsp;Kiana Robinson ,&nbsp;Mark Borgstrom ,&nbsp;Ashley Ryan ,&nbsp;Vinodh Narayanan ,&nbsp;Valerie Schaibley","doi":"10.1016/j.rare.2024.100045","DOIUrl":"10.1016/j.rare.2024.100045","url":null,"abstract":"<div><h3>Introduction</h3><p>Rett syndrome (RTT) is a neurodevelopmental disorder that primarily affects females and can result in cognitive impairment, seizures, spasticity, breathing problems, gastrointestinal issues, motor impairment, and behavioral concerns. Gene therapy may be a potential treatment in the future as clinical trials are underway.</p></div><div><h3>Aim</h3><p>This study evaluates the attitudes and opinions of family members and caregivers of patients with RTT towards gene therapy using a mixed-method approach.</p></div><div><h3>Methods</h3><p>Sixty-six caregivers of individuals with RTT completed an online survey asking about their previous experience in research and questions about their understanding of gene therapy, their expectations, as well as their hopes and concerns for treating RTT. Ten respondents also participated in online focus groups, which were evaluated using thematic analysis.</p></div><div><h3>Results</h3><p>Overall, most participants (95.5 %) had heard about gene therapy. More than half of the respondents (68.2 %) reported being somewhat knowledgeable about gene therapy, and 18.2 % reported no understanding of gene therapy. When asked the highest level of risk they would accept when enrolling the individual with Rett syndrome in a gene therapy clinical trial, 47.7 % stated they would accept a low risk, and 7.7 % indicated they would accept a high risk. In the focus groups, individuals discussed barriers to gene therapy, their hopes and concerns regarding gene therapy treatment, and how they would like to receive information about future research and therapies. Participants had concerns about possible side effects of gene therapy, including physical and mental harm, a potential decrease in quality of life, whether individuals with RTT would want to “change who they are,” and the irreversibility of the treatment.</p></div><div><h3>Conclusion</h3><p>Although most participants have heard about gene therapy, many caregivers would only accept a low risk when considering gene therapy for the individual with RTT. This could be in part due to concerns about side effects and potential harm to the patient as well as anticipated barriers related to cost and accessibility to appropriate follow-up care. Understanding caregiver opinions is important in setting goals and evaluating the success of current studies, identifying and addressing barriers to trials and treatment, and in the development and implementation of educational resources for gene therapy in RTT.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100045"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000280/pdfft?md5=cb4a3d53ac7ef8de6c552689c039350d&pid=1-s2.0-S2950008724000280-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142243128","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"What influences people’s decision to participate in clinical trials? A qualitative interview study with patients and parents of patients diagnosed with primary membranoproliferative glomerulonephritis (MPGN)","authors":"Rebecca Bruu Carver ,&nbsp;Isabelle Budin-Ljøsne","doi":"10.1016/j.rare.2024.100048","DOIUrl":"10.1016/j.rare.2024.100048","url":null,"abstract":"<div><div>Primary membranoproliferative glomerulonephritis (MPGN) is a group of ultra rare kidney disorders associated with complement activation. MPGN often appears in young age and isincurable. Current treatments have varying efficiency and new clinical trials are underway to identify better and more tailored treatment pathways. We conducted semi-structured digital interviews with an international sample of MPGN patients and parents of MPGN patients to understand how they would make any potential decision to participate in future clinical trials. Six main factors influenced the decision-making process: the trial design and practical aspects, personal motivation, concerns about participation, expert advice, current state of illness, and family situation. More specifically, patients and parents considered important that participation in clinical trials is compatible with work and family life and that the expected side effects are limited. They would be motivated by the prospect of maintaining or improving their kidney function or if their current condition was poor. Providing comprehensive information about the risks and benefits of participation, co-designing trials in partnership with patients and limiting the burdens associated with participation may positively impact recruitment and adherence rates.</div></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100048"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142654382","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bone manifestations in Snyder‐Robinson syndrome","authors":"Teri L. Koerner ,&nbsp;Armon M. Green ,&nbsp;Daniel J. Pace-Farr ,&nbsp;Colton M. Zeitler ,&nbsp;Matthew B. Schwartz ,&nbsp;Mary Jo F. Kutler","doi":"10.1016/j.rare.2024.100025","DOIUrl":"10.1016/j.rare.2024.100025","url":null,"abstract":"<div><h3>Purpose</h3><p>Snyder-Robinson syndrome (SRS) is a rare, X-linked condition caused by loss of function variants in the <em>SMS</em> gene, which codes for spermine synthase, an enzyme essential for synthesis of the polyamine spermine [1]. It is speculated that polyamines are crucial for osteoblast activity [2]. While published cases of SRS have reported osteopenia or osteoporosis, the natural history of bone health in individuals with SRS has not yet been explored. It is hypothesized that the natural history of bone health in these individuals results in low bone density for age and increased fractures in the absence of intervention. It is important for healthcare providers to recognize bone manifestations in individuals with SRS so that an appropriate standard of care can be administered.</p></div><div><h3>Methods</h3><p>Case histories of 40 males with SRS spanning various ages from birth through adulthood were obtained from the Global Snyder-Robinson Syndrome Natural History Study and previously published cases. The data described and summarized in this study included dual x-ray absorptiometry (DEXA) scan results, fractures, and bisphosphonate treatment histories.</p></div><div><h3>Results</h3><p>Most individuals experienced at least one fracture, which was most common in their lower extremities. A greater number of fractures was reported when individuals did not receive bisphosphonates. Favorable DEXA results showed improvements in Z-scores and bone mineral density in individuals on bisphosphonates.</p></div><div><h3>Conclusion</h3><p>SRS is associated with persistent low bone density for age or osteoporosis. Treatment with bisphosphonates and long-term use requires further evaluation. This review contributes to the knowledge of bone health in the SRS population.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100025"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000085/pdfft?md5=2dc39a73e268b62893eaa845bba143e9&pid=1-s2.0-S2950008724000085-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140276036","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Calciphylaxis in POEMS syndrome: Case report","authors":"Danica Novacic ,&nbsp;Thomas Uldrick ,&nbsp;Alina Dulau-Florea ,&nbsp;Colleen Evans Howe ,&nbsp;Chyi-Chia R. Lee ,&nbsp;Heidi H. Kong ,&nbsp;William A. Gahl","doi":"10.1016/j.rare.2024.100019","DOIUrl":"10.1016/j.rare.2024.100019","url":null,"abstract":"<div><p>POEMS Syndrome is a constellation of findings including Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal plasma cell disorder, and <strong>S</strong>kin changes. Calciphylaxis, a microangiopathy involving vascular calcification and thrombotic occlusions, occurs rarely in POEMS. We present a case of prominent calciphylaxis that antedated the diagnosis of POEMS. The patient presented with extensive ecchymoses progressing to necrotic lesions in the setting of acute renal injury. Previously, she had chronic slowly progressive polyneuropathy, splenomegaly, hypothyroidism, amenorrhea, and ascites. Calciphylaxis was diagnosed on skin biopsy, and POEMS was diagnosed based upon clinical findings plus a bone marrow biopsy showing 15% lambda chain restricted plasma cells. Treatment for the calciphylaxis was supportive with fluids, tissue debridement, wound vacuum devices and antibiotics for secondary infection. Myeloma was treated with bortezomib and steroids. All aspects of the patient’s manifestations improved. We conclude that calciphylaxis can be a prominent feature of POEMS and can appear prior to recognition of the full-blown syndrome.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100019"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000024/pdfft?md5=88019e680a36035c0b87cad46ae3f5fd&pid=1-s2.0-S2950008724000024-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139688139","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts","authors":"Elizabeth E. Blue ,&nbsp;Samuel J. Huang ,&nbsp;Alyna Khan ,&nbsp;Katie Golden-Grant ,&nbsp;Brenna Boyd ,&nbsp;Elisabeth A. Rosenthal ,&nbsp;Madelyn A. Gillentine ,&nbsp;Leah R. Fleming ,&nbsp;David R. Adams ,&nbsp;Lynne Wolfe ,&nbsp;Aimee Allworth ,&nbsp;Michael J. Bamshad ,&nbsp;Nikeisha J. Caruana ,&nbsp;Sirisak Chanprasert ,&nbsp;Jingheng Chen ,&nbsp;Nitsuh Dargie ,&nbsp;Daniel Doherty ,&nbsp;Marisa W. Friederich ,&nbsp;Fuki M. Hisama ,&nbsp;Martha Horike-Pyne ,&nbsp;Ian A. Glass","doi":"10.1016/j.rare.2024.100040","DOIUrl":"10.1016/j.rare.2024.100040","url":null,"abstract":"<div><p>Biallelic pathogenic variants in <em>UQCRFS1</em> underlie a rare form of isolated mitochondrial complex III deficiency associated with lactic acidosis and a distinctive scalp alopecia previously described in two unrelated probands. Here, we describe a participant in the Undiagnosed Diseases Network (UDN) with a dual diagnosis of two autosomal recessive disorders revealed by genome sequencing: <em>UQCRFS1</em>-related mitochondrial complex III deficiency and <em>GJA8</em>-related cataracts. Both pathogenic variants have been reported before: <em>UQCRFS1</em> (NM_006003.3:c.215–1 G&gt;C, p.Val72_Thr81del10) in a case with mitochondrial complex III deficiency and <em>GJA8</em> (NM_005267.5:c.736 G&gt;T, p.Glu246*) as a somatic change in aged cornea leading to decreased junctional coupling. A multi-modal approach combining enzyme assays and cellular proteomics analysis provided clear evidence of complex III respiratory chain dysfunction and low abundance of the Rieske iron-sulfur protein, validating the pathogenic effect of the <em>UQCRFS1</em> variant. This report extends the genotypic and phenotypic spectrum for these two rare disorders and highlights the utility of deep phenotyping and genomics data to achieve diagnosis and insights into rare disease.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100040"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000231/pdfft?md5=34089144a820807a4d410de477e1dc51&pid=1-s2.0-S2950008724000231-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141997654","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pandemic preparedness needs for children with rare diseases and their families: A perspective of COVID-19 experiences","authors":"Jessica Keeley ,&nbsp;Aysha Stroobach ,&nbsp;Meg Huston ,&nbsp;Andrew Wilson ,&nbsp;Jenny Lam ,&nbsp;Adelaide Withers ,&nbsp;Cornelia van Veldhuisen ,&nbsp;Gareth Baynam ,&nbsp;Jenny Downs","doi":"10.1016/j.rare.2024.100039","DOIUrl":"10.1016/j.rare.2024.100039","url":null,"abstract":"<div><p>People living with rare diseases had a high risk of negative health outcomes due to COVID-19. Pandemic preparedness will ensure best practice procedures and optimal outcomes during future pandemic events. This paper sought to understand the needs of children with rare diseases during the COVID-19 pandemic to inform preparation for future pandemic and disaster events. First, impacts and outcomes from the COVID-19 pandemic on people living with rare disease were identified in the literature. The literature demonstrated that the COVID-19 pandemic had significant and multiple impacts on people with rare diseases. Second, a qualitative descriptive study was conducted, involving members of 17 families with a child with a rare neuromuscular disorder in 2021, to explore COVID-19 pandemic experiences. Qualitative data coded to Bronfenbrenner’s socio-ecological systems model and described impacts on the child’s physical (e.g., respiratory infections), mental (e.g., anxiety), and social (e.g., maintaining connections) health and wellbeing. Families reported resilience and risk factors in their interactions with health and therapy services, and education. Families valued diseases specific information and heightened awareness of infection control across the community. Third, public health guidelines for emergency preparedness were examined to inform recommendations for pandemic and disaster preparedness for people living with rare diseases. Guided by the literature, qualitative data and disaster management frameworks, recommendations that aim to prevent diagnostic delay, optimise coordination of health and social supports, improve education, planning and training, and maintain research and development were identified. The importance of pandemic preparedness for children with rare diseases cannot be understated. Risk and resilience factors in the context of highly individual requirements inform lessons for children living with rare diseases. This study informs future policy and procedure preparation for future pandemic events and other disasters to optimise healthcare of children with rare diseases.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100039"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S295000872400022X/pdfft?md5=7d3981f35e922fd792c7bb34c897643c&pid=1-s2.0-S295000872400022X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142011243","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Review of a rare maternally-derived unbalanced translocation involving deletion of chromosome 10q26.3 and duplication of chromosome 15q22.2→15q26.3 in a 32-year-old male patient: A case report","authors":"Paige Heckel ,&nbsp;Elizabeth VanSickle ,&nbsp;Lia Zitano ,&nbsp;Salah Ebrahim ,&nbsp;Timothy Moss","doi":"10.1016/j.rare.2024.100041","DOIUrl":"10.1016/j.rare.2024.100041","url":null,"abstract":"<div><p>Deletion of the most distal segment of chromosome 10q in conjunction with duplication of terminal 15q is a rare chromosomal disorder, appearing to be a unique finding within the present literature. We report a 32-year-old male patient with an unbalanced translocation between chromosomes 10 and 15, resulting in a 344 kb terminal deletion of chromosome 10q26.3 and a 41 Mb duplication of chromosome 15q22.2→15q26.3 as a result of a maternally-derived balanced translocation. Patient features included global developmental delay and severe cognitive impairment, significant kyphoscoliosis, diffuse core, extremity, and facial hypotonia, and finger irregularities including broad thumbs, broad fingertips with persistent fetal finger pads, and right-handed flexion contracture. The unique features of the present case, including the age of the patient, may assist in providing a broader understanding of features associated with unbalanced translocations between telomeric portions of chromosomes 10 and 15 as well as provide insight into adult phenotyping which is not currently addressed in available literature.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100041"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000243/pdfft?md5=916cad236ae86ff569f9f1457e72eecd&pid=1-s2.0-S2950008724000243-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142149829","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}