Trisomy 19 q.
Two sibs with trisomy for the long arm of chromosome 19 are reported. The common features included flat facial profile with microcephaly, hypertelorism, ptosis, prominence of the glabella, small nose with anteverted nostrils and a characteristic fish-shaped mouth. In addition congenital heart disease, physical retardation and seizures were seen in both sibs. That tristomy 19q can be suspected clinically is emphasized.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002903:Chromosomes, Human, 19-20; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D015619:Respiratory System Abnormalities; D012640:Seizures / Q000151:congenital; D013933:Thumb / Q000002:abnormalities; D014314:Trisomy