Pain insensitivity in a child with a de novo interstitial deletion of the long arm of the chromosome 4: Case report
Rev. chil. pediatr; 88 (3), 2017
Terminal and interstitial deletions of the distal segment of the long arm of chromosome 4 (Cr4q del) are not common genetic disorders. The severity of the phenotype is correlated with the size of the deletion because small deletions have little clinical impact, whereas large deletions are usually associa...
Anomalías Múltiples/diagnóstico, Anomalías Múltiples/genética, Deleción Cromosómica, Cromosomas Humanos Par 4, Discapacidades del Desarrollo/diagnóstico, Discapacidades del Desarrollo/genética, Discapacidad Intelectual/diagnóstico, Discapacidad Intelectual/genética, Insensibilidad Congénita al Dolor/diagnóstico, Insensibilidad Congénita al Dolor/genética