Premium
Stillborn baby with partial monosomy of the short arm of chromosome 5 and partial trisomy of the short arm of chromosome 20
Author(s) -
Okada Michiko,
Usami Akemi,
Okajima Kaori,
Yamada Miwako,
Yamaguchi Yuka,
Umezaki Izumi,
Matsuda Yoshio,
Ohta Hiroaki
Publication year - 2005
Publication title -
congenital anomalies
Language(s) - English
Resource type - Journals
eISSN - 1741-4520
pISSN - 0914-3505
DOI - 10.1111/j.1741-4520.2005.00087.x
Subject(s) - monosomy , chromosomal translocation , partial trisomy , trisomy , long arm , chromosome , isochromosome , chromosome 7 (human) , chromosome 18 , chromosome 4 , chromosome 21 , biology , genetics , karyotype , gene
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.