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A Case of 48, XXX, +18 Double Trisomy
Author(s) -
Imai Ikuko,
Shimao Satoshi,
Suzuki Yoshifumi,
Okada Toshio
Publication year - 1987
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.1987.tb00027.x
Subject(s) - medicine , trisomy , hypoplasia , autopsy , occiput , anatomy , pathology , genetics , biology
We report a case of double trisomy, 48, XXX, + 18 in a newborn female who had low set ears, prominent occiput, receding chin, overlapping fingers, structural heart disease and other malformations. These deformities are similar to the characteristic manifestations of trisomy 18 syndrome. She died on the 10th day. Autopsy revealed VSD, ASD, PDA, coarctation of the aorta, Meckel's diverticulum and cerebellar hypoplasia. Our case showed unilateral anomalies on the right side. These may help to suggest the diagnosis of double trisomy.