Trisomy 13 with a 13q14q translocation.
A sporadic case of Patau syndrome with 46,XY,14-,t(13q14q)+ karyotype is reported in a 2-month-old child. Dermatoglyphic and cytogenetic findings of the propositus and cytogenetic study of his parents are presented.
D000015:Abnormalities, Multiple; D002869:Chromosome Aberrations; D002901:Chromosomes, Human, 13-15; D003878:Dermatoglyphics; D004423:Ear / Q000002:abnormalities; D005532:Foot Deformities, Congenital; D006228:Hand Deformities, Congenital; D006554:Hernia, Umbilical; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D008844:Micrognathism; D008850:Microphthalmos; D010413:Penis / Q000002:abnormalities; D011662:Pulmonary Subvalvular Stenosis; D013577:Syndrome; D014178:Translocation, Genetic; D014314:Trisomy