Trisomy (18q) and tetrasomy (18p) resulting from isochromosome formation.
In this paper we report two clinically recognizable chromosomal syndromes, both resulting from isochromosome 18 formation, i.e. trisomy 18q and tetrasomy 18p. The possible mechanisms of the isochromosome formation are discussed and the literature on subject is reviewed.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002869:Chromosome Aberrations; D002887:Chromosomes, Human, Pair 18; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D012886:Skull / Q000002:abnormalities; D013577:Syndrome; D014314:Trisomy