Combined immunodeficiency in a 3-year-old boy with 16p11.2 and 20p12.2-11.2 chromosomal duplications

摘要

We report for the first time on a 3-year-old boy with paternally inherited 212.85kb-16p11.2 and 7.8Mb-20p12.2-11.23 interstitial microduplications associated with having congenital cardiac defect, dysmorphic facial features, and combined T-, B-, and NK cell immunodeficiency. In addition the 7.8Mb-20p12.2-11.23 microduplication is unique showing novel breakpoints among all partial trisomy/duplication 20p reported to date, narrowing down the critical region for trisomy 20p syndrome.