[Mosaic trisomy 14 due to an iso dicentric chromosome (author's transl)].
Mosaic trisomy 14 due to a de novo formation of an iso dicentric chromosome 14 was observed in a male negro infant who died at the age of one week. Together with three previous reports in the literature of mosaic trisomy 14, this observation allows the delineation of a syndrome characterized by intrauterine growth retardation ; craniofacial dysmorphism with frontal bossing ; hypertelorism ; microretrognathia, small, lowset, abnormally folded ears ; a translucent film over the eyes ; and congenital heart disease.
D002869:Chromosome Aberrations; D002901:Chromosomes, Human, 13-15; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009030:Mosaicism; D011247:Pregnancy; D014314:Trisomy
Trisomie 14 en mosaïque par isochromosome dicentrique.