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

Irina Stefanova*, Jutta Jenderny, Elke Kaminsky, Anca Mannhardt, Peter Meinecke, Liliana Grozdanova, Gabriele Gillessen-Kaesbach

*Korrespondierende/r Autor/-in für diese Arbeit
8 Zitate (Scopus)

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.

OriginalspracheEnglisch
ZeitschriftClinical Dysmorphology
Jahrgang19
Ausgabenummer3
Seiten (von - bis)123-127
Seitenumfang5
ISSN0962-8827
DOIs
PublikationsstatusVeröffentlicht - 01.07.2010

Strategische Forschungsbereiche und Zentren

  • Querschnittsbereich: Medizinische Genetik

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