Neuroblastoma

Neuroblastoma is a malignant tumor of neural crest cells, the cells that give rise to the sympathetic nervous system, which is observed in children.

Spherocytosis

The presence of erythrocytes that are sphere-shaped.


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PMID (PMCID)
24665034
 MALE Infant
Multiple congenital anomalies-intellectual disability (MCA-ID) and neuroblastoma in a patient harboring a de novo 14q23.1q23.3 deletion.
Lehalle D, Sanlaville D, Guimier A, Plouvier E, Leblanc T, Galmiche L, Radford I, Romana S, Colleaux L, de Pontual L, Lyonnet S, Amiel J.
Am J Med Genet A. 2014;164A(5):1310-7.
Here, we report on a de novo 14q23.1-q23.3 microdeletion in a male presenting with a neuroblastoma diagnosed at 9 months, and spherocytosis, congenital heart defect, cryptorchidism, hypoplasia of corpus callosum, epilepsy, and developmental delay.