Tetraploid/diploid mosaicism: case report and review of the literature.
We report a girl with tetraploid/diploid mosaicism who presents failure to thrive and multiple minor anomalies. The clinical features of the proband are compared with the 13 previously reported cases with similar karyotype.
Alonso
Luís
L
Anatomy Division, Morphology Department, São Paulo Federal University-Paulista School of Medicine, São Paulo, Brazil. luisalonso.morf@unifesp.epm.br <luisalonso.morf@unifesp.epm.br>
Melaragno
Isabel
I
Bortolai
Adriana
A
Takeno
Silvia
S
Brunoni
Decio
D
D002675:Child, Preschool; D000013:Congenital Abnormalities / Q000235:genetics; D004171:Diploidy; D005183:Failure to Thrive; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D011123:Polyploidy