Trisomy 14 mosaicism in a liveborn male: clinical report and review of the literature.
We present the history and results of chromosome analysis of a liveborn male with mosaic trisomy 14 who was initially evaluated for a congenital heart defect. His chromosome complement was 46,XY/47,XY,+14. The phenotype of the patient is similar in many respects to that of females previously reported with mosaic trisomy 14, whereas the patient's micropenis and cryptorchidism are consistent with findings in males with dup(14q).
D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002901:Chromosomes, Human, 13-15; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009030:Mosaicism; D010641:Phenotype; D014314:Trisomy