A Case of 48, XXX, +18 Double Trisomy
作者:
Ikuko Imai,
Satoshi Shimao,
Yoshifumi Suzuki,
Toshio Okada,
期刊:
Pediatrics International
(WILEY Available online 1987)
卷期:
Volume 29,
issue 1
页码: 178-181
ISSN:1328-8067
年代: 1987
DOI:10.1111/j.1442-200X.1987.tb00027.x
出版商: Blackwell Publishing Ltd
关键词: Malformation;Trisomy 18;XXX;Double trisomy.
数据来源: WILEY
摘要:
AbstractWe 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.
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