Familial partial trisomy 15.
A family, including two sibs with partial trisomy 15 is described. Maternal chromosome analysis revealed 46,XX/47,XX,+15q-, mosaicism. These findings are discussed in relation to seventeen previously published cases, some of which were sporadic and others due to maternal balanced translocation.
D002901:Chromosomes, Human, 13-15; D004827:Epilepsy / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D009030:Mosaicism; D010375:Pedigree; D014314:Trisomy