A girl with partial trisomy 5q35-->qter and partial trisomy 13pter-->q31 derived via a maternal balanced translocation

Eur J Pediatr. 2002 Jun;161(6):360-1. doi: 10.1007/s00431-002-0946-4. Epub 2002 Apr 16.

Authors

Atsushi Uchiyama¹, Noriyuki Haneda, Kyoko Saito, Satomi Miyamoto, Yuichi Takusa, Rie Kanai, Masahiko Kimura, Hitoshi Sejima, Seiji Yamaguchi

Affiliation

¹ Department of Paediatrics, Shimane Medical University, Izumo, Shimane 693-8501, Japan. [email protected]

PMID: 12029462
DOI: 10.1007/s00431-002-0946-4

Abstract

A girl with partial trisomy 5q35qter and partial trisomy 13pterq31 shows a less severe clinical course.

Publication types

Case Reports

MeSH terms

Chromosomes, Human, Pair 13 / genetics*
Chromosomes, Human, Pair 5 / genetics*
Female
Humans
Infant
Translocation, Genetic
Trisomy*