Chromosome 13q-mosaicism
Overview
A very rare chromosomal disorder where a copy of the long arm of chromosome 13 in some of the body's cells. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
Symptoms
* Unusual facial appearance * Skeletal anomalies * Brain malformations * Absent corpus callosum * Underdeveloped cerebral vermian * 4th ventricular system abnormality * Chorioretinal coloboma * Abnormal retinal pigmentation
Diagnosis
This medical information about signs and symptoms for Chromosome 13q-mosaicism has been gathered from various sources, may not be fully accurate, and may not be the full list of Chromosome 13q-mosaicism signs or Chromosome 13q-mosaicism symptoms. Furthermore, signs and symptoms of Chromosome 13q-mosaicism may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Chromosome 13q-mosaicism symptoms.