Mosaic and complete tetraploidy in live-born infants: two... : Clinical Dysmorphology (original) (raw)

ORIGINAL ARTICLES

Mosaic and complete tetraploidy in live-born infants: two new patients and review of the literature

Stefanova, Irinaa; Jenderny, Juttab; Kaminsky, Elkec; Mannhardt, Ancad; Meinecke, Petere; Grozdanova, Lilianaf; Gillessen-Kaesbach, Gabrielea

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

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.