Familial inheritance of 14q terminal deletion syndrome and review of the literature

Terminal deletions of chromosome 14q are characterized by a spectrum of phenotypes that can include microcephaly, growth deficiency, intellectual disability, characteristic facial features, and various congenital anomalies. The rarity of this syndrome, together with the broad spectrum of phenotypes, has made genotype-phenotype correlations difficult. Herein, we describe a family with the core features of the condition and a heterozygous 3.7 Mb deletion at 14q32.32qter. To our knowledge, this is the first case of vertical transmission of a terminal 14q deletion. In addition to this family, we review 19 previously reported individuals. Additional descriptions of individuals with terminal 14q deletions will help to fully characterize the phenotypic spectrum and define the natural history of this condition.