TY - JOUR
T1 - Mosaic and complete tetraploidy in live-born infants: Two new patients and review of the literature
AU - Stefanova, Irina
AU - Jenderny, Jutta
AU - Kaminsky, Elke
AU - Mannhardt, Anca
AU - Meinecke, Peter
AU - Grozdanova, Liliana
AU - Gillessen-Kaesbach, Gabriele
PY - 2010/7/1
Y1 - 2010/7/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=77953534948&partnerID=8YFLogxK
U2 - 10.1097/MCD.0b013e3283353877
DO - 10.1097/MCD.0b013e3283353877
M3 - Journal articles
C2 - 20305547
AN - SCOPUS:77953534948
SN - 0962-8827
VL - 19
SP - 123
EP - 127
JO - Clinical Dysmorphology
JF - Clinical Dysmorphology
IS - 3
ER -
