Diagnosis of Spinocerebellar Ataxia in the West Indies

Yearwood, Ashley K.; Rethi, Shruthi; Figueroa, Karla P.; Walker, Ruth H.; Sobering, Andrew K.

doi:10.7916/d8dv329c

Cited by 4 publications

(1 citation statement)

References 15 publications

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“…Here, we describe a 5-year-old boy who had multiple congenital abnormalities and a suspected genetic syndrome. He is from an underserved small West Indian island community that typically does not have access to specialty medical services (Charles et al, 2017;Sobering et al, 2017;Wardeh et al, 2018;Yearwood et al, 2018), or genetic testing (Roach et al, 2015). After clinical evaluation and laboratory investigation, he was found to have an apparently de novo unbalanced translocation with duplication of the terminal region of chromosome 5p and deletion of the terminal region of chromosome 18q.…”

Section: Introductionmentioning

confidence: 99%

A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay

Verdi

Elsea

et al. 2022

Molec Gen & Gen Med

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Background Individuals with various sized terminal duplications of chromosome 5p or terminal deletions of chromosome 18q have been described. These aberrations may cause congenital malformations and intellectual disability of varying severity. Methods Via an international collaborative effort, we obtained a cytogenetic diagnosis for a 5‐year‐old boy of Afro‐Caribbean ancestry who has global developmental delay, dysmorphology, hypotonia, feeding difficulties, bilateral club feet, and intellectual disability. Results Conventional G‐banded karyotyping showed additional chromatin of unknown origin on the long arm of chromosome 18. SNP microarray confirmed the loss of ~6.4 Mb from chromosome 18q: arr[hg19] 18q22.3‐q23(71,518,518‐77,943,115)x1. The source of the additional chromatin was determined from the microarray to be ~32 Mb from the short arm of chromosome 5 (arr[hg19] 5p13.3‐p15.33(51,045‐32,062,984)x3). The unbalanced translocation was verified by fluorescent in situ hybridization (FISH). Both parents are healthy and have normal karyotypes suggesting that this abnormality arose de novo in the proband, although gonadal mosaicism in a parent cannot be excluded. Conclusion The combination of clinical features in this individual is most likely due to the partial deletion of 18q and partial duplication of 5p, which to our knowledge has not been previously described.

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Section: Introductionmentioning

confidence: 99%

A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay

Verdi

Elsea

et al. 2022

Molec Gen & Gen Med

Self Cite

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Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community

Sobering

Beighley

et al. 2020

American J of Med Genetics Pt C

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We describe our experiences with organizing pro bono medical genetics and neurology outreach programs on several different resource‐limited islands in the West Indies. Due to geographic isolation, small population sizes, and socioeconomic disparities, most Caribbean islands lack medical services for managing, diagnosing, and counseling individuals with genetic disorders. From 2015 to 2019, we organized 2–3 clinics per year on various islands in the Caribbean. We also organized a week‐long clinic to provide evaluations for children suspected of having autism spectrum disorder. Consultations for over 100 different individuals with suspected genetic disorders were performed in clinics or during home visits following referral by locally registered physicians. When possible, follow‐up visits were attempted. When available and appropriate, clinical samples were shipped to collaborating laboratories for molecular analysis. Laboratory tests included karyotyping, cytogenomic microarray analysis, exome sequencing, triplet repeat expansion testing, blood amino acid level determination, biochemical assaying, and metabolomic profiling. We believe that significant contributions to healthcare by genetics professionals can be made even if availability is limited. Visiting geneticists may help by providing continuing medical education seminars. Clinical teaching rounds help to inform local physicians regarding the management of genetic disorders with the aim of generating awareness of genetic conditions. Even when only periodically available, a visiting geneticist may benefit affected individuals, their families, their local physicians, and the community at large.

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The Geographic Diversity of Spinocerebellar Ataxias (SCAs) in the Americas: A Systematic Review

Teive

Meira

Camargo

et al. 2019

Movement Disord Clin Pract

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Background The frequency and presentation of each of the most common forms of spinocerebellar ataxias (SCAs) varies widely. In the case of the Americas, this diversity is particularly dynamic given additional social, demographic, and cultural characteristics. Objective To describe the regional prevalence and clinical phenotypes of SCAs throughout the continent. Methods A literature search was performed in both MEDLINE and LILACS databases. The research was broadened to include the screening of reference lists of systematic review articles for additional studies. Investigations dating from the earliest available through 2019. Only studies in English, Portuguese, and Spanish were included. We analyzed publications with genetically confirmed cases only, ranging from robust samples with epidemiological data to case reports and case series from each country or regions. Results Overall, SCA3 is the most common form in the continent. Region‐specific prevalence and ranking of the common forms vary. On the other hand, region‐specific phenotypic variations were not consistently found based on the available literature analyzed, with the exception of the absence of epilepsy in SCA10 consistently described in a particular cluster of cases in South Brazil. Conclusion Systematic, multinational studies analyzing in detail the true frequencies of SCAs across the Americas as well as distinct clinical signs and clues of each form would be ideal to look for these potential variations.

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Diagnosis of Spinocerebellar Ataxia in the West Indies

Cited by 4 publications

References 15 publications

A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay

A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay

Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community

The Geographic Diversity of Spinocerebellar Ataxias (SCAs) in the Americas: A Systematic Review

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