Mosaic 13 trisomy due to de novo 13/13 translocation with subsequent fission. Karyotype: 46,XX,-13, +t(13;13)(p11;q11)/46,XX,del(13)(p11). A second example.
In this paper we report a second example of 13 trisomy mosaicism due to de novo 13/13 translocation followed by postzygotic fission of the translocation chromosome in a polymalformed female newborn.
Fryns
J P
JP
Centre for Human Genetics, U.Z. Gasthuisberg, Leuven, Belgium.
Kleczkowska
A
A
Jaeken
J
J
Van Herck
K
K
Van den Berghe
M H
MH
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D025063:Chromosome Disorders; D002882:Chromosomes, Human, Pair 13 / Q000648:ultrastructure*; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008938:Mitosis; D009006:Monosomy; D009030:Mosaicism; D014178:Translocation, Genetic; D014314:Trisomy; D014781:Viscera / Q000002:abnormalities