Mosaic trisomy 19 syndrome.
A stillborn male infant with mosaic trisomy 19 (46,XY/47,XY,+19) is reported. The prenatal ultrasound revealed polyhydramnios, edema of the fetal head and abdominal ascites. The clinical features of the proband include hydrops, epicanthal fold, hypertelorism, flat nasal bridge, short nose, small mouth, low-set and malformed ears, narrow meati, short neck with excessive skin, short chest, protuberant abdomen, mild relative shortening of the proximal portion of the extremities, spoon-shaped nails, Simian lines and club feet. These features are compared to two earlier reports of trisomy 19q syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics; D002903:Chromosomes, Human, 19-20; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009030:Mosaicism; D014314:Trisomy