Partial trisomy 18q
Darnaude, M.T.; López Pajares, I.; Delicado, A.; García Frias, E.
Anales Espanoles de Pediatria 26(6): 460-462
1987
ISSN/ISBN: 0302-4342 PMID: 3631780 Document Number: 286855
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.