Submicroscopic deletion in 14q32.3 through a de novo tandem translocation between 14q and 21p

We describe a male child with craniofacial anomalies, postnatal onset growt h retardation, microcephaly, multiple minor anomalies, hearing loss, and mo derate delay of mental and statomotor development. Be carries a previously undescribed tandem translocation between the long arm of chromosome 14 and the short arm of chromosome 21 that arose de novo. As proven by fluorescenc e in situ hybridization a microdeletion not detectable with high-resolution Gr-banding occured in 14q32.3, the terminal band on the long arm of chromo some 14, The resulting phenotype includes most abnormalities encountered in patients with terminal 14q32.3 deletions but in addition includes some cha racteristics of the ring chromosome 14 syndrome. Am. J, Med, Genet. 80:443- 447, 1998. (C) 1998 Wiley-Liss, Inc.