A liveborn case of 49,XXXY, + 18.
The first case of a liveborn male infant trisomic for both the X and the No 18 chromosome is presented. The patient had multiple congenital anomalies many of which were similar in appearance to patients with trisomy 18. The proband died after 2 days. Both maternal and paternal karyotypes were normal.
D000015:Abnormalities, Multiple / Q000235:genetics; D002902:Chromosomes, Human, 16-18; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D012729:Sex Chromosome Aberrations; D014314:Trisomy; D014960:X Chromosome