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Unbalanced 13q/21q translocation: A revised study of the case previously reported as 21-monosomy

✍ Scribed by Tatsuro Ikeuchi; Ikuko Kondo; Motomichi Sasaki; Yasuhiko Kaneko; Susumu Kodama; Tsukasa Hattori


Publisher
Springer
Year
1976
Tongue
English
Weight
449 KB
Volume
33
Category
Article
ISSN
0340-6717

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✦ Synopsis


Reexamination was made on a male infant previously reported as 21-monosomy. Extensive chromosome banding analyses in the patient and parents disclosed an unbalanced de novo translocation between chromosomes 13 and 21. The patient's karyotype was interpreted as 45,XY,--13,--21+der(13),t(13;21) (q2 or 3;q1 or 2)pat. The patient showed many clinical features characteristic of 13q--syndrome.


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