A Rare Case of 15q11.2 Microdeletion Syndrome with Atypical Features: Diagnostic Dilemma

Abstract

Burnside Butler syndrome or 15q11.2 microdeletion syndrome is a relatively rare chromosomal abnormality that is recently being recognized. Current diagnostic techniques like chromosomal microarray analysis (CMA) have profoundly contributed to currently reported cases. The diagnostic dilemma is that prenatal screening and karyotype analysis typically yield unclear results. We would like to emphasize the importance of taking a detailed family history, knowing the classic clinical features, and using CMA to help diagnose this syndrome. We present an eight-year-old Caucasian female with a past medical history of intrauterine growth restriction, microcephaly, a high arched palate, speech delay, and a learning disability with recurrent bleeding from the eyes and oral cavity. The bleeding co-occurs whenever she develops the common cold.

Prenatal diagnosis of a de novo 15q11.2 microdeletion in a maternal inv(4)(p15q31) fetus with increased nuchal translucency

“…Forty three percent individuals had abnormal brain imaging, and 26% had features of epilepsy. [13] In another review of 56 patients with 15q11.2 microdeletion, 59% patients presented development delay, 36% patients presented speech delay. And among the patients beyond 1 year (49/56), 90% presented speech delay, 67% showed behavioral and neurological disorders such as ataxia, dyspraxia, hypotonia, obsessive-complusive disorder, and 25% showed seizures.…”

“…However, although 15q11.2 microdeletion is smaller than both type I and type II deletion, the typical features of 15q11.2 microdeletion carriers include neurobehavioral problems, developmental and language delays, intrauterine growth restriction and dysmorphic features. [13] …”