De novo partial trisomy of chromosome 18(pter yields q11:). Some observations on the phenotype mapping of chromosome 18 imbalances.
An infant with a partial trisomy 18(pter yields q11:) is described. The patient's phenotype consists of many features of complete trisomy 18. The findings are compared with those from similar cases reported in the literature permitting to conclude that 18q121-q122 segment is the "critical" zone which when trisomic, causes the severe stigmata (inner organ malformations and early death) of the complete trisomy 18.
D002675:Child, Preschool; D002874:Chromosome Mapping; D002902:Chromosomes, Human, 16-18; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D014314:Trisomy