Duplication 8q24.2----qter and 15q14----pter resulting from a 3:1 meiotic segregation of a maternal reciprocal translocation.
We report on a 16-year-old female with duplication 8q24.2----qter and 15q14----pter resulting from a 3:1 segregation of a maternal balanced reciprocal translocation. This mode of unbalanced segregation could be predicted from Pachytene-diagram drawing. Most of her clinical manifestations can be related to the proximal 15q trisomy. To our knowledge there is only one previous report of a similar chromosome constitution.
Kausch
K
K
Department of Human Genetics, University of Würzburg, West Germany.
Haaf
T
T
Schmid
M
M
D000293:Adolescent; D002884:Chromosomes, Human, Pair 15; D002898:Chromosomes, Human, Pair 8; D005260:Female; D005819:Genetic Markers; D006801:Humans; D009630:Nondisjunction, Genetic; D014178:Translocation, Genetic; D014314:Trisomy
D005819:Genetic Markers