Pub Date : 2003-10-01DOI: 10.1016/S0003-3995(03)00018-2
Alain Verloes , Jean-Paul Misson , Philippe Gillet , Clarisse Baumann , Micheline Spiritus , Manuel Deprez
We report on two sisters who show a similar pattern of anomalies consisting of bilateral Stilling–Türk–Duane retraction syndrome (type 3), non-progressive hypotonia with delayed motor milestones but normal intelligence, severe, early onset scoliosis, and short stature. Muscular biopsy revealed numerous regenerating fibers, but no specific abnormalities among the non-regenerating fibers. This combination of anomalies has not been previously reported, and could represent a new autosomal recessive syndrome. The only differential diagnosis is Crisfield–Dretakis–Sharpe syndrome, a combination of lateral gaze palsy, ptosis, and scoliosis without hypotonia, recessively inherited.
我们报告了两名姐妹，她们表现出类似的异常模式，包括双侧stillling - t rk - duane后缩综合征(3型)，非进行性张力低下伴运动里程碑延迟，但智力正常，严重的早发性脊柱侧凸和身材矮小。肌肉活检显示大量再生纤维，但非再生纤维未见特殊异常。这种异常的组合以前没有报道过，可能代表一种新的常染色体隐性综合征。唯一的鉴别诊断是Crisfield-Dretakis-Sharpe综合征，这是一种隐性遗传的组合，包括侧视麻痹、上睑下垂和脊柱侧凸，但无强直。
{"title":"Duane anomaly, congenital myopathy and severe scoliosis in sibs: new AR syndrome?","authors":"Alain Verloes , Jean-Paul Misson , Philippe Gillet , Clarisse Baumann , Micheline Spiritus , Manuel Deprez","doi":"10.1016/S0003-3995(03)00018-2","DOIUrl":"10.1016/S0003-3995(03)00018-2","url":null,"abstract":"<div><p>We report on two sisters who show a similar pattern of anomalies consisting of bilateral Stilling–Türk–Duane retraction syndrome (type 3), non-progressive hypotonia with delayed motor milestones but normal intelligence, severe, early onset scoliosis, and short stature. Muscular biopsy revealed numerous regenerating fibers, but no specific abnormalities among the non-regenerating fibers. This combination of anomalies has not been previously reported, and could represent a new autosomal recessive syndrome. The only differential diagnosis is Crisfield–Dretakis–Sharpe syndrome, a combination of lateral gaze palsy, ptosis, and scoliosis without hypotonia, recessively inherited.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"46 4","pages":"Pages 449-452"},"PeriodicalIF":0.0,"publicationDate":"2003-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S0003-3995(03)00018-2","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24112051","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2003-10-01DOI: 10.1016/S0003-3995(03)00019-4
Cíntia Barros Santos , Giancarlo Discepoli , Francesco Pigliapoco , Raquel Boy , Márcia Mattos Gonçalves Pimentel
We report a case of a reciprocal translocation between the long arms of the 2 and 10 chromosomes observed in a 14-year-old male with mild mental impairment, compulsive and obsessive behavior. The apparently balanced translocation was characterized by fluorescence in situ hybridization and the karyotype was 46, XY, t(2;10)(q24;q22). The way by balanced chromosomal translocations can lead to a disease phenotype are reviewed and discussed.
{"title":"De novo balanced translocation (2;10)(q24;q22) associated with mental retardation","authors":"Cíntia Barros Santos , Giancarlo Discepoli , Francesco Pigliapoco , Raquel Boy , Márcia Mattos Gonçalves Pimentel","doi":"10.1016/S0003-3995(03)00019-4","DOIUrl":"10.1016/S0003-3995(03)00019-4","url":null,"abstract":"<div><p>We report a case of a reciprocal translocation between the long arms of the 2 and 10 chromosomes observed in a 14-year-old male with mild mental impairment, compulsive and obsessive behavior. The apparently balanced translocation was characterized by fluorescence in situ hybridization and the karyotype was 46, XY, t(2;10)(q24;q22). The way by balanced chromosomal translocations can lead to a disease phenotype are reviewed and discussed.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"46 4","pages":"Pages 471-473"},"PeriodicalIF":0.0,"publicationDate":"2003-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S0003-3995(03)00019-4","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24112053","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2003-09-01DOI: 10.1016/S0003-3995(03)00041-8
{"title":"From chromosomes to microarrays","authors":"","doi":"10.1016/S0003-3995(03)00041-8","DOIUrl":"https://doi.org/10.1016/S0003-3995(03)00041-8","url":null,"abstract":"","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"46 2","pages":"Pages 345-354"},"PeriodicalIF":0.0,"publicationDate":"2003-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S0003-3995(03)00041-8","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138324514","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2003-09-01DOI: 10.1016/S0003-3995(03)00053-4
{"title":"Imprinting and epigenetics","authors":"","doi":"10.1016/S0003-3995(03)00053-4","DOIUrl":"https://doi.org/10.1016/S0003-3995(03)00053-4","url":null,"abstract":"","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"46 2","pages":"Pages 285-288"},"PeriodicalIF":0.0,"publicationDate":"2003-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S0003-3995(03)00053-4","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138308862","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
扫码关注我们
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号