[Partial trisomy for the distal part of the long arm of chromosome 15 due to a balanced maternal X/15 tranlsocation].
Partial trisomy for the distal part of 15q due to a balanced maternal translocation t(X;15) is described in a 21-month old girl with growth and psychomotor retardation and a cranio-facial dysmorphism ressembling that of a previously reported patient. Treatment of lymphocytes with BrdU has shown inactivation of the normal X in the mother, and inactivation of either the abnormal or the normal X in the proposita. When the abnormal X was inactivated, the extent of inactivation of the autosome was variable.
D000328:Adult; D002901:Chromosomes, Human, 13-15; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D007621:Karyotyping; D008431:Maternal-Fetal Exchange; D011247:Pregnancy; D014314:Trisomy
Trisomie partielle pour la partie distale du bras long du chromosome 15 par translocation X/15 maternelle.