A girl with partial trisomy 5q35-->qter and partial trisomy 13pter-->q31 derived via a maternal balanced translocation.
A girl with partial trisomy 5q35qter and partial trisomy 13pterq31 shows a less severe clinical course.
Uchiyama
Atsushi
A
Department of Paediatrics, Shimane Medical University, Izumo, Shimane 693-8501, Japan. auchiyam@shimane-med.ac.jp
Haneda
Noriyuki
N
Saito
Kyoko
K
Miyamoto
Satomi
S
Takusa
Yuichi
Y
Kanai
Rie
R
Kimura
Masahiko
M
Sejima
Hitoshi
H
Yamaguchi
Seiji
S
D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D014178:Translocation, Genetic; D014314:Trisomy