Mosaicism for trisomy 3q arising from an unbalanced, de novo t(3;15).
We report on a 2 1/2 year old girl who is dysmorphic, developmentally delayed, and mosaic for an unbalanced, de novo translocation between chromosomes 3 and 15. The karyotype from peripheral blood lymphocytes is 46,XX (50) and the karyotype from skin fibroblasts is 46,XX (28)/46,XX,der(15)t(3;15)(q11;p11) (23). The mechanism for the generation of this unbalanced, de novo translocation is discussed.
Stallings
R
R
National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland.
Vaughn
D
D
Hall
K
K
Joyce
C
C
Ryan
F
F
Barton
D
D
Geraghty
M
M
D000015:Abnormalities, Multiple / Q000235:genetics*; D002460:Cell Line; D002675:Child, Preschool; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D005347:Fibroblasts / Q000648:ultrastructure; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D009030:Mosaicism; D014178:Translocation, Genetic; D014314:Trisomy