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A case of (13q;18q) translocation with proximal 13q monosomy

✍ Scribed by Yasuyuki Suzuki; Kazuo Ono; Shigehiro Oka; Toshiko Matsubara; Masataka Arima; Yasuo Nakagome

Publisher
Springer
Year
1977
Tongue
English
Weight
214 KB
Volume
38
Category
Article
ISSN
0340-6717

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✦ Synopsis

A case of partial monosomy of the 13p terminal to 13q12, associated with a de novo 13/18 translocation, is reported. The symptoms appeared to be derived from both 18q- and partial monosomy 13, the latter giving rise to: high arched palate, epicanthus, antimongolian slant, small eye fissure, flat nasal bridge, hypoplastic helix, and large clitoris. Serum Ig-A and Ig-M levels were normal in our case.

πŸ“œ SIMILAR VOLUMES

Unbalanced 13q/21q translocation: A revi
Unbalanced 13q/21q translocation: A revised study of the case previously reported as 21-monosomy
✍ Tatsuro Ikeuchi; Ikuko Kondo; Motomichi Sasaki; Yasuhiko Kaneko; Susumu Kodama; πŸ“‚ Article πŸ“… 1976 πŸ› Springer 🌐 English βš– 449 KB

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