Clinical Report Molecular Characterization of a Patient With Central Nervous System Dysmyelination and Cryptic Unbalanced Translocation Between Chromosomes 4q and 18q
نویسندگان
چکیده
Shelly R. Gunn,* Mansoor Mohammed, Xavier T. Reveles, David H. Viskochil, Janice C. Palumbos, Teresa L. Johnson-Pais, Daniel E. Hale, Jack L. Lancaster, L. Jean Hardies, Odile Boespflug-Tanguy, Jannine D. Cody, and Robin J. Leach Department of Cellular and Structural Biology, The University of Texas Health Science Center, San Antonio, Texas Department of Pediatrics, The University of Texas Health Science Center, San Antonio, Texas Department of Research Imaging Center, The University of Texas Health Science Center, San Antonio, Texas The University of Utah Health Science Center, Salt Lake City, Utah INSERM U 384, Clermont-Ferrand, France Spectral Genomics, Houston, Texas
منابع مشابه
Molecular characterization of a patient with central nervous system dysmyelination and cryptic unbalanced translocation between chromosomes 4q and 18q.
We report on a 12-year-old boy who presented with delayed development and CNS dysmyelination. Genetic studies showed a normal 46,XY karyotype by routine cytogenetic analysis, and 46,XY.ish del(18)(q23)(D18Z1+, MBP-) by FISH using a locus-specific probe for the MBP gene (18q23). Though the patient appeared to have normal chromosome 18s by repeated high resolution banding analysis, his clinical f...
متن کاملMolecular and clinical characterization of a recurrent cryptic unbalanced t(4q;18q) resulting in an 18q deletion and 4q duplication.
Recurrent constitutional non-Robertsonian translocations are very rare. We present the third instance of cryptic, unbalanced translocation between 4q and 18q. This individual had an apparently normal karyotype; however, after subtelomere fluorescence in situ hybridization (FISH), he was found to have a cryptic unbalanced translocation between 4q and 18q [ish der(18)t(4;18)(q35;q23)(4qtel+,18qte...
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Chromosomal defects are relatively frequent in infertile men however, translocations between the Y chromosome and autosomes are rare and less than 40 cases of Y-autosome translocation have been reported. In particular, only three individuals has been described with a Y;21 translocation, up to now. We report on an additional case of an infertile man in whom a Y;21 translocation was associated wi...
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Background: A balanced reciprocal translocation is a structural abnormality, which at least consist of breakage of two non-homologous chromosomes along with pieces exchange and form quadrivalant structure that can produce unbalanced chromosomes during meiosis I and result in a fetus abortion. The aim of the present study is to offer using preimplantation genetic diagnosis (PGD) 24sure array, wh...
متن کاملEndocrine abnormalities in a patient with partial trisomy 4q.
Partial trisomy of the long arm of chromosome 4, usually resulting from a familial segregation of a balanced translocation, has been described in a number of patients. This report describes the genetic and endocrine findings in a 16 year old 46,XY,12q+ mentally retarded male. The banding pattern of the extra chromatin material from this de novo unbalanced translocation shows that the distal seg...
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