Intellectual disability and dysmorphisms in a child with 14q32.31-q32.33 deletion: a case report

Abstract

INTRODUCTION: Intellectual disability and global developmental delay are frequent causes of genetic consultation requested by pediatricians. Around 30% of severe intellectual disability and 70% of mild intellectual disability do not present a defined diagnosis. OBJECTIVES: Chromosome microarray comparative genomic hybridization test is now the standard diagnosis for patients presenting unexplained global developmental delay or intellectual disability, autism spectrum disorders, and multiple congenital anomalies due to the tests sensibility, increasing the chance for a diagnosis and elucidating size and region affected. CASE REPORT: This paper reports a girl with intellectual disability, prominent hypotonia, postnatal growth retardation and several dysmorphisms with a small subtelomeric 14q terminal deletion whose diagnosis was sought during six years and only became possible through the chromosome microarray test.