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Transmission of a t(13q22q) chromosome observed in three generations with segregation of the translocation D1-trisomy syndrome

✍ Scribed by Abe, T. ;Morita, M. ;Kawai, K. ;Misawa, S. ;Kanai, H. ;Hirose, G. ;Fujita, H.

Publisher
Springer-Verlag
Year
1975
Weight
531 KB
Volume
30
Category
Article
ISSN
0018-7348

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✦ Synopsis

A case of an inherited type of D/G translocation D1-trisomy syndrome was described. A female proposita who had the clinical signs of D1-trisomy syndrome was found to have a chromosome complement of 46,XX,--G,+t(DqGq). examination of Q- and G-stained karyotypes revealed that the chromosomes involved in the translocation were members of Nos. 13 and 22, or t(13q22q) with breaks at p12 of both chromosomes. C-stained figures also showed a large heterochromatin block in its centromeric region. The t(13q22q) chromosome was transmitted from the paternal grandmother of the proposita through at least three generations.

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