Article
Molecular characterization of a patient with central nervous system dysmyelination and cryptic unbalanced translocation between chromosomes 4q and 18q.
American journal of medical genetics. Part A - 1 Jul 2003
Gunn Shelly R, Mohammed Mansoor, Reveles Xavier T, Viskochil David H, Palumbos Janice C, Johnson-Pais Teresa L, Hale Daniel E, Lancaster Jack L, Hardies L Jean, Boespflug-Tanguy Odile, Cody Jannine D, Leach Robin J
Abstract excerpt
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 features were...
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