Stillborn baby with partial monosomy of the short arm of chromosome 5 and partial trisomy of the short arm of chromosome 20.

Autor:	Okada, Michiko, Usami, Akemi, Okajima, Kaori, Yamada, Miwako, Yamaguchi, Yuka, Umezaki, Izumi, Matsuda, Yoshio, Ohta, Hiroaki
Předmět:	STILLBIRTH NEONATAL death HUMAN abnormalities CHROMOSOMAL translocation GENETICS TRISOMY
Zdroj:	Congenital Anomalies; Dec2005, Vol. 45 Issue 4, p161-164, 4p, 1 Color Photograph, 3 Diagrams, 1 Chart
Abstrakt:	A stillborn baby with multiple malformations, including cardiac defects and cerebellar hypoplasia, is described. The abnormal features were ascribed to an unbalanced chromosome translocation, resulting in a partial deletion of the short arm of chromosome 5 and a partial trisomy of the short arm of chromosome 20. A parental balanced translocation t(5; 20)(p13.3; p11.23) was identified. The present case is the first case in Japan of monosomy of the short arm of chromosome 5 and trisomy of the short arm of chromosome 20. [ABSTRACT FROM AUTHOR]
Databáze:	Complementary Index
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