Partial trisomy 1q syndrome.
Six cases of partial trisomy 1q, including four cases from the literature and our own two observations are summarized with respect to their clinical symptoms. Distinct similarities of the external aspect and of internal malformations allow the delineation of a syndrome of partial trisomy 1q.
D000015:Abnormalities, Multiple / Q000235:genetics; D002900:Chromosomes, Human, 1-3; D002901:Chromosomes, Human, 13-15; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014178:Translocation, Genetic; D014314:Trisomy