Genetic Counseling Challenges: A Case Report of a 6-Year-Old Child with Developmental Delay and B-Acute Lymphoblastic Leukemia

Abstract

Background: A 34-year-old father attended the Genetic Counseling session with concerns of the previous child who had a developmental delay (DD) and developed B-cell acute lymphoblastic leukemia at 4 years of age. Genetic evaluation for DD was suggested at 2 years and was not done. At the age of 4 years, she developed acute lymphoblastic leukemia and died due to a relapse at 6 years of age. He was concerned about his offspring’s risk for the above disorders. Investigations: First-tier genetic workup of chromosomal analysis revealed an abnormal mosaic karyotype of addition of chromosome 9p22, ?11p and monosomy 21 and florescence in situ hybridization revealed gain in 21q22 in most of the cells. Clinical exome sequencing showed a 17.25 Mb deletion in chromosome 8 and variant of unknown significance in the NUP214 gene. Chromosomal microarray detected a loss of 27.1 Mb in chromosome 8, gain of 102.3 Mb in chromosome 8p11.22q24.3 and 1.1 Mb chromosome 14q31.1q32.2. Conclusion: This case report will highlight the importance of early genetic testing and challenges in genetic counseling in view of hematological malignancy in a child with preexisting DD.