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Partial monosomy 13 and 21 due to a familial 13/21 translocation

✍ Scribed by Priscila Guimarães Otto; Sergio Toledo; Antonio Richieri-Costa; Paulo Alberto Otto; Angela M. Vianna-Morgante; Sanae Kasahara

Book ID
104704626
Publisher
Springer
Year
1978
Tongue
English
Weight
426 KB
Volume
41
Category
Article
ISSN
0340-6717

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✦ Synopsis

Two patients are described with a monosomy for the proximal part of the long are of chromosome 13 and for the distal part of the long arm of chromosome 21, due to an unbalanced 13/21 translocation.

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Partial trisomy 6p due to familial trans
Partial trisomy 6p due to familial translocation t(6;20)(p21;p13)
✍ Martijn H. Breuning; Jan B. Bijlsma; Henny F. France 📂 Article 📅 1977 🏛 Springer 🌐 English ⚖ 349 KB

Cytogenetic findings in a case of partial trisomy 6p due to a translocation t(6;20)(p21;p13) and eleven balanced translocation heterozygotes are described. The clinical data of the proposita are compared with those of five other published cases. A partial trisomy 6p syndrome is postulated, character

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; 📂 Article 📅 1976 🏛 Springer 🌐 English ⚖ 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