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

ABSTRACT  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 shor...

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Bibliographic Details
Published in:Congenital anomalies 2005-12, Vol.45 (4), p.161-164
Main Authors: Okada, Michiko, Usami, Akemi, Okajima, Kaori, Yamada, Miwako, Yamaguchi, Yuka, Umezaki, Izumi, Matsuda, Yoshio, Ohta, Hiroaki
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Chromosome Deletion
Chromosomes, Human, Pair 20 - genetics
Chromosomes, Human, Pair 5 - genetics
Humans
Infant
Infant, Newborn
Japan
Karyotyping
multiple malformations
parental balanced translocation
partial monosomy 5p
partial trisomy 20p
Stillbirth
stillborn baby
Translocation, Genetic
Trisomy
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Summary:ABSTRACT  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.
ISSN:0914-3505
1741-4520
DOI:10.1111/j.1741-4520.2005.00087.x