[Partial trisomy 18q].
Authors present a new case with partial trisomy for long arms of chromosome 18(q12-qter) resulting from a balanced translocation t(4;18) on her mother. Comparing clinical features of our patient with that of other reported cases with the same trisomic segment, we can deduce that most important characteristics on this syndrome are: psychomotor and grow retardation, congenital heart disease, dolicocephaly, low set and malformed ears, micrognathia, short neck with redundant skin and a longer survival than in total trisomy 18.
D002871:Chromosome Banding; D002887:Chromosomes, Human, Pair 18; D005260:Female; D006228:Hand Deformities, Congenital; D006801:Humans; D007223:Infant; D007621:Karyotyping; D010641:Phenotype; D012886:Skull / Q000002:abnormalities; D014314:Trisomy
Trisomía parcial 18q.