American Journal of Medical Genetics最新文献_第4页

Studies with His475Tyr glutamate carboxipeptidase II polymorphism and neural tube defects. His475Tyr谷氨酸羧肽酶II多态性与神经管缺陷的研究。

American Journal of Medical Genetics Pub Date : 2002-08-01 DOI: 10.1002/ajmg.10568

Alexandre R Vieira, Dimitri Trembath, Don C Vandyke, Jeffrey C Murray, Stephen Marker, Gary Lerner, Erin Bonner, Marcy Speer

引用次数: 15

Some pitfalls of segregation analysis of complex traits. 复杂性状分离分析的一些缺陷。

American Journal of Medical Genetics Pub Date : 2002-08-01 DOI: 10.1002/ajmg.10524

Tatiana I Axenovich, Pavel M Borodin

引用次数: 0

Somatic mosaicism and variable expression of Townes-Brocks syndrome. townes - broks综合征的体细胞嵌合体和可变表达。

American Journal of Medical Genetics Pub Date : 2002-08-01 DOI: 10.1002/ajmg.10485

Koen Devriendt, Jean-Pierre Fryns, Francis Lemmens, Jürgen Kohlhase, Manuela Liebers

引用次数: 12

Further case of Cantú syndrome: exclusion of cryptic subtelomeric chromosome aberrations. Cantú综合征的进一步病例:排除隐性亚端粒染色体畸变。

American Journal of Medical Genetics Pub Date : 2002-08-01 DOI: 10.1002/ajmg.10560

Hartmut Engels, Kristin Bosse, Antje Ehrbrecht, Susanne Zahn, Alexander Hoischen, Peter Propping, Lutz Bindl, Heiko Reutter

{"title":"Further case of Cantú syndrome: exclusion of cryptic subtelomeric chromosome aberrations.","authors":"Hartmut Engels, Kristin Bosse, Antje Ehrbrecht, Susanne Zahn, Alexander Hoischen, Peter Propping, Lutz Bindl, Heiko Reutter","doi":"10.1002/ajmg.10560","DOIUrl":"https://doi.org/10.1002/ajmg.10560","url":null,"abstract":"Cantú syndrome consists of hypertrichosis, osteochondrodysplasia, and cardiomegaly, and has been reported in 18 patients to date. We report an infant with Cantú syndrome. In addition to typical findings, he had relatively mild radiological and cardiological manifestations. Previously undescribed findings included pyloric stenosis and elevated alkaline phosphatase levels. Brain scans showed bilateral calcification of the Arteriae thalamostriatae and widening of the outer liquor spaces and lateral ventricles. Because the propositus is the youngest patient reported to date, our findings refine the clinical spectrum of Cantú syndrome in neonates and young infants. The etiology and mode of inheritance of Cantú syndrome are unknown. Most cases are sporadic. Microdeletions have been discussed as a possible cause of Cantú syndrome. Recently, several syndromes with multiple congenital anomalies and mental retardation have been shown to be caused by subtelomeric chromosome aberrations. We excluded the presence of a cryptic subtelomeric chromosome anomaly in our patient by fluorescence in situ hybridization (FISH) screening with locus-specific probes.","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"111 2","pages":"205-9"},"PeriodicalIF":0.0,"publicationDate":"2002-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/ajmg.10560","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21972517","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}

引用次数: 26

Revaluation twenty-three years later of a supernumerary derivative chromosome 9. 23年后对多余的衍生染色体9的重新评估。

American Journal of Medical Genetics Pub Date : 2002-08-01 DOI: 10.1002/ajmg.10548

Catherine Yardin, Françoise Esclaire, Faraj Terro, Dominique Barthe, Brigitte Gilbert

引用次数: 0

Pulmonary alveolar microlithiasis: clinical features, evolution of the phenotype, and review of the literature. 肺泡微石症:临床特征、表型演变及文献回顾。

American Journal of Medical Genetics Pub Date : 2002-08-01 DOI: 10.1002/ajmg.10530

G Castellana, M Gentile, R Castellana, P Fiorente, V Lamorgese

引用次数: 66

Posterior urethral valves and mirror image anomalies in monozygotic twins. 同卵双胞胎后尿道瓣膜与镜像异常。

American Journal of Medical Genetics Pub Date : 2002-08-01 DOI: 10.1002/ajmg.10563

Francesco Morini, Michele Ilari, Alessandra Casati, Antonietta Piserà, Lucia Oriolo, Denis A Cozzi

引用次数: 25

Scapuloiliac dysostosis (Kosenow syndrome, pelvis-shoulder dysplasia) spectrum: three additional cases. 肩胛骨骨不全(Kosenow综合征，骨盆-肩部发育不良)谱:新增3例。

American Journal of Medical Genetics Pub Date : 2000-12-18 DOI: 10.1002/1096-8628(20001218)95:5<496::aid-ajmg16>3.0.co;2-e

A M Elliott, E R Roeder, D R Witt, D L Rimoin, R S Lachman

引用次数: 10

Absence of 9q22-9qter in trisomy 9 does not prevent a Dandy-Walker phenotype. 9三体缺少9q22-9qter并不能阻止Dandy-Walker表型。

American Journal of Medical Genetics Pub Date : 2000-12-18

C S von Kaisenberg, A Caliebe, M Krams, B J Hackelöer, W Jonat

{"title":"Absence of 9q22-9qter in trisomy 9 does not prevent a Dandy-Walker phenotype.","authors":"C S von Kaisenberg, A Caliebe, M Krams, B J Hackelöer, W Jonat","doi":"","DOIUrl":"","url":null,"abstract":"We report on a female fetus with partial trisomy 9 due to a reciprocal translocation in the mother. Routine ultrasound examination at 23 weeks showed hypoplasia of the cerebellar vermis, dilated foramen Magendii, and dilatation of the cisterna magna. Due to the poor prognosis, the parents opted for termination of pregnancy. A postmortem examination confirmed caudal hypoplasia and dysplasia of the cerebellar vermis, resulting in a massively dilated foramen Magendii through which the enlarged cisterna magna communicated with the fourth ventricle. There was also micropolygyria indicating migration disorder. Cytogenetic studies showed a 47,XX,+der(9)t(7;9) (q35;q22.2)mat karyotype. Investigation of the parents revealed a translocation (7;9) (q35;q22.2) in the mother and a normal male karyotype in the father. We systematically searched the chromosome 9 gene map for genes that were trisomic in our fetus and genes that were located on the regions that had the normal two copies of genes. Genes that could potentially be involved in the formation of the Dandy-Walker phenotype are transcription factors or genes responsible for the regulation of normal in particular cerebral development but also adhesion molecules. We conclude that one cause for Dandy-Walker malformation could be a gene dosage effect of genes located on 9pter-9q22. In addition, it seems that absence of trisomy 9 in q22-pter does not prevent abnormal cerebellar development.","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"95 5","pages":"425-8"},"PeriodicalIF":0.0,"publicationDate":"2000-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21968596","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}

引用次数: 0

New dysostosis showing multilevel absence of vertebral pedicles: unique developmental anomaly of vertebral arches? 多节段椎弓根缺失:椎弓发育异常?

American Journal of Medical Genetics Pub Date : 2000-12-18

A Verloes, C Muller, P Philippet

引用次数: 0