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 inCongenital anomalies Vol. 45; no. 4; pp. 161 - 164
Main Authors Okada, Michiko, Usami, Akemi, Okajima, Kaori, Yamada, Miwako, Yamaguchi, Yuka, Umezaki, Izumi, Matsuda, Yoshio, Ohta, Hiroaki
Format Journal Article
LanguageEnglish
Published Melbourne, Australia Blackwell Science Pty 01.12.2005
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
Japan
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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.
Bibliography:Present address
Miwako Yamada, Department of Pediatrics, National Center for Child Health and Development, Tokyo, Japan; Yuka Yamaguchi, Department of Obstetrics and Gynecology, Shiseikai Dai‐Ni Hospital, Tokyo, Japan
ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:0914-3505
1741-4520
DOI:10.1111/j.1741-4520.2005.00087.x