ORIGINAL ARTICLESMosaic and complete tetraploidy in live-born infants: two new patients and review of the literatureStefanova, Irinaa; Jenderny, Juttab; Kaminsky, Elkec; Mannhardt, Ancad; Meinecke, Petere; Grozdanova, Lilianaf; Gillessen-Kaesbach, GabrieleaAuthor Information aInstitut für Humangenetik, Universität zu Lübeck, Lübeck bLabor Lademannbogen cPraxis für Humangenetik dWerner-Otto-Institut eMedizinische Genetik, Altonaer Kinderkrankenhaus, Hamburg, Germany fDepartment of Medical Genetics, University Hospital, Medical University, Plovdiv, Bulgaria Correspondence to Dr Irina Stefanova, MD, Institut für Humangenetik, Universitätsklinik SH, Ratzeburger Allee 160, Lübeck 23538, Germany Tel: +49 4515002624; fax: +49 4515004187; e-mail: [email protected] Received 13 March 2009 Accepted 10 November 2009 Clinical Dysmorphology: July 2010 - Volume 19 - Issue 3 - p 123-127 doi: 10.1097/MCD.0b013e3283353877 Buy Metrics Abstract Tetraploidy is a very rare finding in live-born infants. Nine infants with tetraploidy have been reported earlier. The phenotype is of variable severity and consists of prenatal and/or postnatal growth retardation, developmental delay, mental retardation, dysmorphic features, and skeletal and internal abnormalities. Here we present a girl aged 2 years and 7 months with a mosaic tetraploidy detected in lymphocytes, and a newborn boy with a complete tetraploidy, who died 30 h after birth. They both show growth retardation, microcephaly, developmental delay, and craniofacial dysmorphisms. The clinical features of 22 patients reported earlier are reviewed. © 2010 Lippincott Williams & Wilkins, Inc.